Canonical Allele Identifier: CA388673498

Gene: ERCC5 BIVM-ERCC5

Linked Data

• gnomAD v4: 13-102873285-A-G
• MyVariant Identifiers: chr13:g.103525635A>G (hg19) ; chr13:g.102873285A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102873285A>G , CM000675.2:g.102873285A>G	GRCh38
NC_000013.10:g.103525635A>G , CM000675.1:g.103525635A>G	GRCh37
NC_000013.9:g.102323636A>G	NCBI36
NG_007146.1:g.32462A>G , LRG_464:g.32462A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.4007A>G (ERCC5)
ENST00000682869.1:n.3555A>G (ERCC5)
ENST00000683246.1:n.4543A>G (ERCC5)
ENST00000683642.1:n.3136A>G (ERCC5)
ENST00000639132.1:c.3581A>G (BIVM-ERCC5)	ENSP00000492684.1:p.Asn1194Ser
ENST00000639435.1:c.4268A>G (BIVM-ERCC5)	ENSP00000491742.1:p.Asn1423Ser
ENST00000651002.1:c.*2667A>G (ERCC5)	ENSP00000498809.1:n.*2667A>G
ENST00000651055.1:n.3033A>G (ERCC5)
ENST00000651281.1:n.3274A>G (ERCC5)
ENST00000651387.1:n.2390A>G (ERCC5)
ENST00000651470.1:c.*78A>G (ERCC5)	ENSP00000498701.1:n.*78A>G
ENST00000652225.2:c.2906A>G (ERCC5) MANE Select	ENSP00000498881.2:p.Asn969Ser
ENST00000652613.1:c.2402A>G (ERCC5)	ENSP00000498357.1:p.Asn801Ser
ENST00000355739.8:c.2906A>G (ERCC5)	ENSP00000347978.4:p.Asn969Ser
ENST00000375954.1:c.605A>G (ERCC5)	ENSP00000365121.1:p.Asn202Ser
ENST00000610537.4:c.2903A>G (ERCC5)	ENSP00000478667.1:p.Asn968Ser
NM_000123.3:c.2906A>G , LRG_464t1:c.2906A>G (ERCC5)	NP_000114.2:p.Asn969Ser
NM_001204425.1:c.4268A>G (BIVM-ERCC5)	NP_001191354.1:p.Asn1423Ser
NM_000123.4:c.2906A>G (ERCC5) MANE Select	NP_000114.3:p.Asn969Ser
NM_001204425.2:c.4268A>G (BIVM-ERCC5)	NP_001191354.2:p.Asn1423Ser