Canonical Allele Identifier: CA255466914

Gene: ERCC5 BIVM-ERCC5

Linked Data

• dbSNP Id: rs1033861973
• gnomAD v2: 13-103525668-T-C
• gnomAD v4: 13-102873318-T-C
• MyVariant Identifiers: chr13:g.103525668T>C (hg19) ; chr13:g.102873318T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102873318T>C , CM000675.2:g.102873318T>C	GRCh38
NC_000013.10:g.103525668T>C , CM000675.1:g.103525668T>C	GRCh37
NC_000013.9:g.102323669T>C	NCBI36
NG_007146.1:g.32495T>C , LRG_464:g.32495T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.4040T>C (ERCC5)
ENST00000682869.1:n.3588T>C (ERCC5)
ENST00000683246.1:n.4576T>C (ERCC5)
ENST00000683642.1:n.3169T>C (ERCC5)
ENST00000639132.1:c.3614T>C (BIVM-ERCC5)	ENSP00000492684.1:p.Val1205Ala
ENST00000639435.1:c.4301T>C (BIVM-ERCC5)	ENSP00000491742.1:p.Val1434Ala
ENST00000651002.1:c.*2700T>C (ERCC5)	ENSP00000498809.1:n.*2700T>C
ENST00000651055.1:n.3066T>C (ERCC5)
ENST00000651281.1:n.3307T>C (ERCC5)
ENST00000651387.1:n.2423T>C (ERCC5)
ENST00000651470.1:c.*111T>C (ERCC5)	ENSP00000498701.1:n.*111T>C
ENST00000652225.2:c.2939T>C (ERCC5) MANE Select	ENSP00000498881.2:p.Val980Ala
ENST00000652613.1:c.2435T>C (ERCC5)	ENSP00000498357.1:p.Val812Ala
ENST00000355739.8:c.2939T>C (ERCC5)	ENSP00000347978.4:p.Val980Ala
ENST00000375954.1:c.638T>C (ERCC5)	ENSP00000365121.1:p.Val213Ala
ENST00000610537.4:c.2936T>C (ERCC5)	ENSP00000478667.1:p.Val979Ala
NM_000123.3:c.2939T>C , LRG_464t1:c.2939T>C (ERCC5)	NP_000114.2:p.Val980Ala
NM_001204425.1:c.4301T>C (BIVM-ERCC5)	NP_001191354.1:p.Val1434Ala
NM_000123.4:c.2939T>C (ERCC5) MANE Select	NP_000114.3:p.Val980Ala
NM_001204425.2:c.4301T>C (BIVM-ERCC5)	NP_001191354.2:p.Val1434Ala