Canonical Allele Identifier: CA1717343497
Community Standard Title: NM_000501.4(ELN):c.814G= (p.Gly272=)
Gene: ELN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.74051764G= , CM000669.2:g.74051764G= GRCh38
NC_000007.13:g.73466094G= , CM000669.1:g.73466094G= GRCh37
NC_000007.12:g.73104030G= NCBI36
NG_009261.1:g.28668G=

Transcript Alleles

HGVS Amino-acid Change
NM_000501.4:c.814G= MANE Select NP_000492.2:p.Gly272=
ENST00000252034.12:c.814G= MANE Select ENSP00000252034.7:p.Gly272=
NM_000501.3:c.814G= NP_000492.2:p.Gly272=
NM_001081752.2:c.784G= NP_001075221.1:p.Gly262=
NM_001081752.3:c.784G= NP_001075221.1:p.Gly262=
NM_001081753.2:c.829G= NP_001075222.1:p.Gly277=
NM_001081753.3:c.829G= NP_001075222.1:p.Gly277=
NM_001081754.2:c.829G= NP_001075223.1:p.Gly277=
NM_001081754.3:c.829G= NP_001075223.1:p.Gly277=
NM_001081755.2:c.814G= NP_001075224.1:p.Gly272=
NM_001081755.3:c.814G= NP_001075224.1:p.Gly272=
NM_001278912.1:c.814G= NP_001265841.1:p.Gly272=
NM_001278912.2:c.814G= NP_001265841.1:p.Gly272=
NM_001278913.1:c.706G= NP_001265842.1:p.Gly236=
NM_001278913.2:c.706G= NP_001265842.1:p.Gly236=
NM_001278914.1:c.799G= NP_001265843.1:p.Gly267=
NM_001278914.2:c.799G= NP_001265843.1:p.Gly267=
NM_001278915.1:c.814G= NP_001265844.1:p.Gly272=
NM_001278915.2:c.814G= NP_001265844.1:p.Gly272=
NM_001278916.1:c.772G= NP_001265845.1:p.Gly258=
NM_001278916.2:c.772G= NP_001265845.1:p.Gly258=
NM_001278917.1:c.784G= NP_001265846.1:p.Gly262=
NM_001278917.2:c.784G= NP_001265846.1:p.Gly262=
NM_001278918.1:c.682G= NP_001265847.1:p.Gly228=
NM_001278918.2:c.682G= NP_001265847.1:p.Gly228=
NM_001278939.1:c.814G= NP_001265868.1:p.Gly272=
NM_001278939.2:c.814G= NP_001265868.1:p.Gly272=
ENST00000252034.11:c.814G= ENSP00000252034.7:p.Gly272=
ENST00000320399.10:c.814G= ENSP00000313565.6:p.Gly272=
ENST00000320492.11:c.706G= ENSP00000315607.7:p.Gly236=
ENST00000357036.9:c.829G= ENSP00000349540.5:p.Gly277=
ENST00000358929.8:c.814G= ENSP00000351807.5:p.Gly272=
ENST00000380553.8:c.463G= ENSP00000369926.4:p.Gly155=
ENST00000380562.8:c.814G= ENSP00000369936.4:p.Gly272=
ENST00000380575.8:c.784G= ENSP00000369949.4:p.Gly262=
ENST00000380576.9:c.814G= ENSP00000369950.5:p.Gly272=
ENST00000380584.8:c.772G= ENSP00000369958.4:p.Gly258=
ENST00000414324.5:c.799G= ENSP00000392575.1:p.Gly267=
ENST00000429192.5:c.829G= ENSP00000391129.1:p.Gly277=
ENST00000438880.5:c.397G= ENSP00000389206.1:p.Gly133=
ENST00000438906.5:c.748G= ENSP00000406949.1:p.Gly250=
ENST00000445912.5:c.814G= ENSP00000389857.1:p.Gly272=
ENST00000458204.5:c.784G= ENSP00000403162.1:p.Gly262=
ENST00000493839.1:n.280G=
ENST00000621115.4:c.682G= ENSP00000480955.1:p.Gly228=
ENST00000692049.1:c.814G= ENSP00000510104.1:p.Gly272=
XM_005250187.1:c.778G= XP_005250244.1:p.Gly260=
XM_005250187.2:c.778G= XP_005250244.1:p.Gly260=
XM_005250188.1:c.772G= XP_005250245.1:p.Gly258=
XM_005250188.2:c.772G= XP_005250245.1:p.Gly258=
XM_011515868.1:c.829G= XP_011514170.1:p.Gly277=
XM_011515868.2:c.829G= XP_011514170.1:p.Gly277=
XM_011515869.1:c.799G= XP_011514171.1:p.Gly267=
XM_011515870.1:c.793G= XP_011514172.1:p.Gly265=
XM_011515871.1:c.787G= XP_011514173.1:p.Gly263=
XM_011515871.2:c.787G= XP_011514173.1:p.Gly263=
XM_011515872.1:c.829G= XP_011514174.1:p.Gly277=
XM_011515872.2:c.829G= XP_011514174.1:p.Gly277=
XM_011515873.1:c.829G= XP_011514175.1:p.Gly277=
XM_011515873.2:c.829G= XP_011514175.1:p.Gly277=
XM_011515874.1:c.763G= XP_011514176.1:p.Gly255=
XM_011515875.1:c.748G= XP_011514177.1:p.Gly250=
XM_011515875.2:c.748G= XP_011514177.1:p.Gly250=
XM_011515876.1:c.829G= XP_011514178.1:p.Gly277=
XM_011515876.2:c.829G= XP_011514178.1:p.Gly277=
XM_011515877.1:c.829G= XP_011514179.1:p.Gly277=
XM_011515877.2:c.829G= XP_011514179.1:p.Gly277=
XM_017011813.1:c.742G= XP_016867302.1:p.Gly248=
XM_017011814.2:c.787G= XP_016867303.1:p.Gly263=