Canonical Allele Identifier: CA7041784

Gene: ERCC5 BIVM-ERCC5

Linked Data

• dbSNP Id: rs775348948
• ExAC: 13:103525614 G / A
• gnomAD v2: 13-103525614-G-A
• gnomAD v3: 13-102873264-G-A
• gnomAD v4: 13-102873264-G-A
• MyVariant Identifiers: chr13:g.103525614G>A (hg19) ; chr13:g.102873264G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102873264G>A , CM000675.2:g.102873264G>A	GRCh38
NC_000013.10:g.103525614G>A , CM000675.1:g.103525614G>A	GRCh37
NC_000013.9:g.102323615G>A	NCBI36
NG_007146.1:g.32441G>A , LRG_464:g.32441G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.3986G>A (ERCC5)
ENST00000682869.1:n.3534G>A (ERCC5)
ENST00000683246.1:n.4522G>A (ERCC5)
ENST00000683642.1:n.3115G>A (ERCC5)
ENST00000639132.1:c.3560G>A (BIVM-ERCC5)	ENSP00000492684.1:p.Cys1187Tyr
ENST00000639435.1:c.4247G>A (BIVM-ERCC5)	ENSP00000491742.1:p.Cys1416Tyr
ENST00000651002.1:c.*2646G>A (ERCC5)	ENSP00000498809.1:n.*2646G>A
ENST00000651055.1:n.3012G>A (ERCC5)
ENST00000651281.1:n.3253G>A (ERCC5)
ENST00000651387.1:n.2369G>A (ERCC5)
ENST00000651470.1:c.*57G>A (ERCC5)	ENSP00000498701.1:n.*57G>A
ENST00000652225.2:c.2885G>A (ERCC5) MANE Select	ENSP00000498881.2:p.Cys962Tyr
ENST00000652613.1:c.2381G>A (ERCC5)	ENSP00000498357.1:p.Cys794Tyr
ENST00000355739.8:c.2885G>A (ERCC5)	ENSP00000347978.4:p.Cys962Tyr
ENST00000375954.1:c.584G>A (ERCC5)	ENSP00000365121.1:p.Cys195Tyr
ENST00000610537.4:c.2882G>A (ERCC5)	ENSP00000478667.1:p.Cys961Tyr
NM_000123.3:c.2885G>A , LRG_464t1:c.2885G>A (ERCC5)	NP_000114.2:p.Cys962Tyr
NM_001204425.1:c.4247G>A (BIVM-ERCC5)	NP_001191354.1:p.Cys1416Tyr
NM_000123.4:c.2885G>A (ERCC5) MANE Select	NP_000114.3:p.Cys962Tyr
NM_001204425.2:c.4247G>A (BIVM-ERCC5)	NP_001191354.2:p.Cys1416Tyr