Canonical Allele Identifier: CA388675022

Gene: ERCC5 BIVM-ERCC5

Linked Data

• gnomAD v4: 13-102875617-G-C
• MyVariant Identifiers: chr13:g.103527967G>C (hg19) ; chr13:g.102875617G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102875617G>C , CM000675.2:g.102875617G>C	GRCh38
NC_000013.10:g.103527967G>C , CM000675.1:g.103527967G>C	GRCh37
NC_000013.9:g.102325968G>C	NCBI36
NG_007146.1:g.34794G>C , LRG_464:g.34794G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.4376G>C (ERCC5)
ENST00000682869.1:n.3924G>C (ERCC5)
ENST00000683246.1:n.4912G>C (ERCC5)
ENST00000683642.1:n.3505G>C (ERCC5)
ENST00000639132.1:c.3950G>C (BIVM-ERCC5)	ENSP00000492684.1:p.Cys1317Ser
ENST00000639435.1:c.4637G>C (BIVM-ERCC5)	ENSP00000491742.1:p.Cys1546Ser
ENST00000651002.1:c.*3036G>C (ERCC5)	ENSP00000498809.1:n.*3036G>C
ENST00000651055.1:n.3402G>C (ERCC5)
ENST00000651281.1:n.3643G>C (ERCC5)
ENST00000651387.1:n.2759G>C (ERCC5)
ENST00000651470.1:c.*447G>C (ERCC5)	ENSP00000498701.1:n.*447G>C
ENST00000652225.2:c.3275G>C (ERCC5) MANE Select	ENSP00000498881.2:p.Cys1092Ser
ENST00000652613.1:c.2771G>C (ERCC5)	ENSP00000498357.1:p.Cys924Ser
ENST00000355739.8:c.3275G>C (ERCC5)	ENSP00000347978.4:p.Cys1092Ser
ENST00000375954.1:c.974G>C (ERCC5)	ENSP00000365121.1:p.Cys325Ser
ENST00000472247.1:n.435G>C (ERCC5)
ENST00000610537.4:c.3272G>C (ERCC5)	ENSP00000478667.1:p.Cys1091Ser
NM_000123.3:c.3275G>C , LRG_464t1:c.3275G>C (ERCC5)	NP_000114.2:p.Cys1092Ser
NM_001204425.1:c.4637G>C (BIVM-ERCC5)	NP_001191354.1:p.Cys1546Ser
NM_000123.4:c.3275G>C (ERCC5) MANE Select	NP_000114.3:p.Cys1092Ser
NM_001204425.2:c.4637G>C (BIVM-ERCC5)	NP_001191354.2:p.Cys1546Ser