Canonical Allele Identifier: CA388675100

Gene: ERCC5 BIVM-ERCC5

Linked Data

• gnomAD v4: 13-102875653-A-G
• MyVariant Identifiers: chr13:g.103528003A>G (hg19) ; chr13:g.102875653A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102875653A>G , CM000675.2:g.102875653A>G	GRCh38
NC_000013.10:g.103528003A>G , CM000675.1:g.103528003A>G	GRCh37
NC_000013.9:g.102326004A>G	NCBI36
NG_007146.1:g.34830A>G , LRG_464:g.34830A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682632.1:n.4412A>G (ERCC5)
ENST00000682869.1:n.3960A>G (ERCC5)
ENST00000683246.1:n.4948A>G (ERCC5)
ENST00000683642.1:n.3541A>G (ERCC5)
ENST00000639132.1:c.3986A>G (BIVM-ERCC5)	ENSP00000492684.1:p.Asp1329Gly
ENST00000639435.1:c.4673A>G (BIVM-ERCC5)	ENSP00000491742.1:p.Asp1558Gly
ENST00000651002.1:c.*3072A>G (ERCC5)	ENSP00000498809.1:n.*3072A>G
ENST00000651055.1:n.3438A>G (ERCC5)
ENST00000651281.1:n.3679A>G (ERCC5)
ENST00000651387.1:n.2795A>G (ERCC5)
ENST00000651470.1:c.*483A>G (ERCC5)	ENSP00000498701.1:n.*483A>G
ENST00000652225.2:c.3311A>G (ERCC5) MANE Select	ENSP00000498881.2:p.Asp1104Gly
ENST00000652613.1:c.2807A>G (ERCC5)	ENSP00000498357.1:p.Asp936Gly
ENST00000355739.8:c.3311A>G (ERCC5)	ENSP00000347978.4:p.Asp1104Gly
ENST00000375954.1:c.1010A>G (ERCC5)	ENSP00000365121.1:p.Asp337Gly
ENST00000472247.1:n.471A>G (ERCC5)
ENST00000610537.4:c.3308A>G (ERCC5)	ENSP00000478667.1:p.Asp1103Gly
NM_000123.3:c.3311A>G , LRG_464t1:c.3311A>G (ERCC5)	NP_000114.2:p.Asp1104Gly
NM_001204425.1:c.4673A>G (BIVM-ERCC5)	NP_001191354.1:p.Asp1558Gly
NM_000123.4:c.3311A>G (ERCC5) MANE Select	NP_000114.3:p.Asp1104Gly
NM_001204425.2:c.4673A>G (BIVM-ERCC5)	NP_001191354.2:p.Asp1558Gly