Canonical Allele Identifier: CA7041460

Gene: ERCC5 BIVM-ERCC5

Linked Data

• dbSNP Id: rs752916067
• ExAC: 13:103515221 T / C
• gnomAD v2: 13-103515221-T-C
• gnomAD v4: 13-102862871-T-C
• MyVariant Identifiers: chr13:g.103515221T>C (hg19) ; chr13:g.102862871T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102862871T>C , CM000675.2:g.102862871T>C	GRCh38
NC_000013.10:g.103515221T>C , CM000675.1:g.103515221T>C	GRCh37
NC_000013.9:g.102313222T>C	NCBI36
NG_007146.1:g.22048T>C , LRG_464:g.22048T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.1963T>C (ERCC5)
ENST00000682869.1:n.2371T>C (ERCC5)
ENST00000683246.1:n.2499T>C (ERCC5)
ENST00000639132.1:c.2397T>C (BIVM-ERCC5)	ENSP00000492684.1:p.Ala799=
ENST00000639435.1:c.3084T>C (BIVM-ERCC5)	ENSP00000491742.1:p.Ala1028=
ENST00000651002.1:c.*1483T>C (ERCC5)	ENSP00000498809.1:n.*1483T>C
ENST00000651055.1:n.1851T>C (ERCC5)
ENST00000651281.1:n.2090T>C (ERCC5)
ENST00000651387.1:n.1206T>C (ERCC5)
ENST00000651470.1:c.1722T>C (ERCC5)	ENSP00000498701.1:p.Ala574=
ENST00000652225.2:c.1722T>C (ERCC5) MANE Select	ENSP00000498881.2:p.Ala574=
ENST00000652613.1:c.1218T>C (ERCC5)	ENSP00000498357.1:p.Ala406=
ENST00000355739.8:c.1722T>C (ERCC5)	ENSP00000347978.4:p.Ala574=
ENST00000602836.1:c.2998T>C (BIVM-ERCC5)
ENST00000610537.4:c.1722T>C (ERCC5)	ENSP00000478667.1:p.Ala574=
NM_000123.3:c.1722T>C , LRG_464t1:c.1722T>C (ERCC5)	NP_000114.2:p.Ala574=
NM_001204425.1:c.3084T>C (BIVM-ERCC5)	NP_001191354.1:p.Ala1028=
NM_000123.4:c.1722T>C (ERCC5) MANE Select	NP_000114.3:p.Ala574=
NM_001204425.2:c.3084T>C (BIVM-ERCC5)	NP_001191354.2:p.Ala1028=