Canonical Allele Identifier: CA7041867

Gene: ERCC5 BIVM-ERCC5

Linked Data

• dbSNP Id: rs754568193
• ExAC: 13:103527968 C / T
• gnomAD v2: 13-103527968-C-T
• MyVariant Identifiers: chr13:g.103527968C>T (hg19) ; chr13:g.102875618C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102875618C>T , CM000675.2:g.102875618C>T	GRCh38
NC_000013.10:g.103527968C>T , CM000675.1:g.103527968C>T	GRCh37
NC_000013.9:g.102325969C>T	NCBI36
NG_007146.1:g.34795C>T , LRG_464:g.34795C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.4377C>T (ERCC5)
ENST00000682869.1:n.3925C>T (ERCC5)
ENST00000683246.1:n.4913C>T (ERCC5)
ENST00000683642.1:n.3506C>T (ERCC5)
ENST00000639132.1:c.3951C>T (BIVM-ERCC5)	ENSP00000492684.1:p.Cys1317=
ENST00000639435.1:c.4638C>T (BIVM-ERCC5)	ENSP00000491742.1:p.Cys1546=
ENST00000651002.1:c.*3037C>T (ERCC5)	ENSP00000498809.1:n.*3037C>T
ENST00000651055.1:n.3403C>T (ERCC5)
ENST00000651281.1:n.3644C>T (ERCC5)
ENST00000651387.1:n.2760C>T (ERCC5)
ENST00000651470.1:c.*448C>T (ERCC5)	ENSP00000498701.1:n.*448C>T
ENST00000652225.2:c.3276C>T (ERCC5) MANE Select	ENSP00000498881.2:p.Cys1092=
ENST00000652613.1:c.2772C>T (ERCC5)	ENSP00000498357.1:p.Cys924=
ENST00000355739.8:c.3276C>T (ERCC5)	ENSP00000347978.4:p.Cys1092=
ENST00000375954.1:c.975C>T (ERCC5)	ENSP00000365121.1:p.Cys325=
ENST00000472247.1:n.436C>T (ERCC5)
ENST00000610537.4:c.3273C>T (ERCC5)	ENSP00000478667.1:p.Cys1091=
NM_000123.3:c.3276C>T , LRG_464t1:c.3276C>T (ERCC5)	NP_000114.2:p.Cys1092=
NM_001204425.1:c.4638C>T (BIVM-ERCC5)	NP_001191354.1:p.Cys1546=
NM_000123.4:c.3276C>T (ERCC5) MANE Select	NP_000114.3:p.Cys1092=
NM_001204425.2:c.4638C>T (BIVM-ERCC5)	NP_001191354.2:p.Cys1546=