Canonical Allele Identifier: CA1717332189

Gene: ELN

Linked Data

• dbSNP Id: rs1787835336
• gnomAD v4: 7-74028106-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74028106T>C , CM000669.2:g.74028106T>C	GRCh38
NC_000007.13:g.73442436T>C , CM000669.1:g.73442436T>C	GRCh37
NC_000007.12:g.73080372T>C	NCBI36
NG_009261.1:g.5010T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252034.11:c.-82T>C	ENSP00000252034.7:n.-82T>C
ENST00000320492.11:c.-82T>C	ENSP00000315607.7:n.-82T>C
ENST00000358929.8:c.-82T>C	ENSP00000351807.5:n.-82T>C
ENST00000431562.5:c.-82T>C	ENSP00000394549.1:n.-82T>C
ENST00000445912.5:c.-82T>C	ENSP00000389857.1:n.-82T>C
ENST00000621115.4:c.-82T>C	ENSP00000480955.1:n.-82T>C
NM_000501.3:c.-82T>C	NP_000492.2:n.-82T>C
NM_001081752.2:c.-82T>C	NP_001075221.1:n.-82T>C
NM_001081753.2:c.-82T>C	NP_001075222.1:n.-82T>C
NM_001081754.2:c.-82T>C	NP_001075223.1:n.-82T>C
NM_001081755.2:c.-82T>C	NP_001075224.1:n.-82T>C
NM_001278912.1:c.-82T>C	NP_001265841.1:n.-82T>C
NM_001278913.1:c.-82T>C	NP_001265842.1:n.-82T>C
NM_001278914.1:c.-82T>C	NP_001265843.1:n.-82T>C
NM_001278915.1:c.-82T>C	NP_001265844.1:n.-82T>C
NM_001278916.1:c.-82T>C	NP_001265845.1:n.-82T>C
NM_001278917.1:c.-82T>C	NP_001265846.1:n.-82T>C
NM_001278918.1:c.-82T>C	NP_001265847.1:n.-82T>C
NM_001278939.1:c.-82T>C	NP_001265868.1:n.-82T>C
XM_011515868.1:c.-82T>C	XP_011514170.1:n.-82T>C
XM_011515870.1:c.-82T>C	XP_011514172.1:n.-82T>C
XM_011515871.1:c.-82T>C	XP_011514173.1:n.-82T>C
XM_011515872.1:c.-82T>C	XP_011514174.1:n.-82T>C
XM_011515873.1:c.-82T>C	XP_011514175.1:n.-82T>C
XM_011515874.1:c.-82T>C	XP_011514176.1:n.-82T>C
XM_011515875.1:c.-82T>C	XP_011514177.1:n.-82T>C
XM_011515876.1:c.-82T>C	XP_011514178.1:n.-82T>C
XM_011515877.1:c.-82T>C	XP_011514179.1:n.-82T>C
XM_011515875.2:c.-82T>C	XP_011514177.1:n.-82T>C