Canonical Allele Identifier: CA367870468

Gene: ELN

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74048146T>A , CM000669.2:g.74048146T>A	GRCh38
NC_000007.13:g.73462476T>A , CM000669.1:g.73462476T>A	GRCh37
NC_000007.12:g.73100412T>A	NCBI36
NG_009261.1:g.25050T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000501.4:c.690T>A MANE Select	NP_000492.2:p.Tyr230Ter
ENST00000252034.12:c.690T>A MANE Select	ENSP00000252034.7:p.Tyr230Ter
NM_000501.3:c.690T>A	NP_000492.2:p.Tyr230Ter
NM_001081752.2:c.660T>A	NP_001075221.1:p.Tyr220Ter
NM_001081752.3:c.660T>A	NP_001075221.1:p.Tyr220Ter
NM_001081753.2:c.705T>A	NP_001075222.1:p.Tyr235Ter
NM_001081753.3:c.705T>A	NP_001075222.1:p.Tyr235Ter
NM_001081754.2:c.705T>A	NP_001075223.1:p.Tyr235Ter
NM_001081754.3:c.705T>A	NP_001075223.1:p.Tyr235Ter
NM_001081755.2:c.690T>A	NP_001075224.1:p.Tyr230Ter
NM_001081755.3:c.690T>A	NP_001075224.1:p.Tyr230Ter
NM_001278912.1:c.690T>A	NP_001265841.1:p.Tyr230Ter
NM_001278912.2:c.690T>A	NP_001265841.1:p.Tyr230Ter
NM_001278913.1:c.582T>A	NP_001265842.1:p.Tyr194Ter
NM_001278913.2:c.582T>A	NP_001265842.1:p.Tyr194Ter
NM_001278914.1:c.675T>A	NP_001265843.1:p.Tyr225Ter
NM_001278914.2:c.675T>A	NP_001265843.1:p.Tyr225Ter
NM_001278915.1:c.690T>A	NP_001265844.1:p.Tyr230Ter
NM_001278915.2:c.690T>A	NP_001265844.1:p.Tyr230Ter
NM_001278916.1:c.648T>A	NP_001265845.1:p.Tyr216Ter
NM_001278916.2:c.648T>A	NP_001265845.1:p.Tyr216Ter
NM_001278917.1:c.660T>A	NP_001265846.1:p.Tyr220Ter
NM_001278917.2:c.660T>A	NP_001265846.1:p.Tyr220Ter
NM_001278918.1:c.558T>A	NP_001265847.1:p.Tyr186Ter
NM_001278918.2:c.558T>A	NP_001265847.1:p.Tyr186Ter
NM_001278939.1:c.690T>A	NP_001265868.1:p.Tyr230Ter
NM_001278939.2:c.690T>A	NP_001265868.1:p.Tyr230Ter
ENST00000252034.11:c.690T>A	ENSP00000252034.7:p.Tyr230Ter
ENST00000320399.10:c.690T>A	ENSP00000313565.6:p.Tyr230Ter
ENST00000320492.11:c.582T>A	ENSP00000315607.7:p.Tyr194Ter
ENST00000357036.9:c.705T>A	ENSP00000349540.5:p.Tyr235Ter
ENST00000358929.8:c.690T>A	ENSP00000351807.5:p.Tyr230Ter
ENST00000380553.8:c.339T>A	ENSP00000369926.4:p.Tyr113Ter
ENST00000380562.8:c.690T>A	ENSP00000369936.4:p.Tyr230Ter
ENST00000380575.8:c.660T>A	ENSP00000369949.4:p.Tyr220Ter
ENST00000380576.9:c.690T>A	ENSP00000369950.5:p.Tyr230Ter
ENST00000380584.8:c.648T>A	ENSP00000369958.4:p.Tyr216Ter
ENST00000414324.5:c.675T>A	ENSP00000392575.1:p.Tyr225Ter
ENST00000417091.5:c.588T>A	ENSP00000411092.1:p.Tyr196Ter
ENST00000428787.5:c.444T>A	ENSP00000399499.1:p.Tyr148Ter
ENST00000429192.5:c.705T>A	ENSP00000391129.1:p.Tyr235Ter
ENST00000438880.5:c.273T>A	ENSP00000389206.1:p.Tyr91Ter
ENST00000438906.5:c.624T>A	ENSP00000406949.1:p.Tyr208Ter
ENST00000445912.5:c.690T>A	ENSP00000389857.1:p.Tyr230Ter
ENST00000458204.5:c.660T>A	ENSP00000403162.1:p.Tyr220Ter
ENST00000493839.1:n.156T>A
ENST00000621115.4:c.558T>A	ENSP00000480955.1:p.Tyr186Ter
ENST00000692049.1:c.690T>A	ENSP00000510104.1:p.Tyr230Ter
XM_005250187.1:c.654T>A	XP_005250244.1:p.Tyr218Ter
XM_005250187.2:c.654T>A	XP_005250244.1:p.Tyr218Ter
XM_005250188.1:c.648T>A	XP_005250245.1:p.Tyr216Ter
XM_005250188.2:c.648T>A	XP_005250245.1:p.Tyr216Ter
XM_011515868.1:c.705T>A	XP_011514170.1:p.Tyr235Ter
XM_011515868.2:c.705T>A	XP_011514170.1:p.Tyr235Ter
XM_011515869.1:c.675T>A	XP_011514171.1:p.Tyr225Ter
XM_011515870.1:c.669T>A	XP_011514172.1:p.Tyr223Ter
XM_011515871.1:c.663T>A	XP_011514173.1:p.Tyr221Ter
XM_011515871.2:c.663T>A	XP_011514173.1:p.Tyr221Ter
XM_011515872.1:c.705T>A	XP_011514174.1:p.Tyr235Ter
XM_011515872.2:c.705T>A	XP_011514174.1:p.Tyr235Ter
XM_011515873.1:c.705T>A	XP_011514175.1:p.Tyr235Ter
XM_011515873.2:c.705T>A	XP_011514175.1:p.Tyr235Ter
XM_011515874.1:c.639T>A	XP_011514176.1:p.Tyr213Ter
XM_011515875.1:c.624T>A	XP_011514177.1:p.Tyr208Ter
XM_011515875.2:c.624T>A	XP_011514177.1:p.Tyr208Ter
XM_011515876.1:c.705T>A	XP_011514178.1:p.Tyr235Ter
XM_011515876.2:c.705T>A	XP_011514178.1:p.Tyr235Ter
XM_011515877.1:c.705T>A	XP_011514179.1:p.Tyr235Ter
XM_011515877.2:c.705T>A	XP_011514179.1:p.Tyr235Ter
XM_017011813.1:c.618T>A	XP_016867302.1:p.Tyr206Ter
XM_017011814.2:c.663T>A	XP_016867303.1:p.Tyr221Ter