Canonical Allele Identifier: CA388675079

Gene: ERCC5 BIVM-ERCC5

Linked Data

• dbSNP Id: rs2140543665
• MyVariant Identifiers: chr13:g.103527994C>A (hg19) ; chr13:g.102875644C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102875644C>A , CM000675.2:g.102875644C>A	GRCh38
NC_000013.10:g.103527994C>A , CM000675.1:g.103527994C>A	GRCh37
NC_000013.9:g.102325995C>A	NCBI36
NG_007146.1:g.34821C>A , LRG_464:g.34821C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.4403C>A (ERCC5)
ENST00000682869.1:n.3951C>A (ERCC5)
ENST00000683246.1:n.4939C>A (ERCC5)
ENST00000683642.1:n.3532C>A (ERCC5)
ENST00000639132.1:c.3977C>A (BIVM-ERCC5)	ENSP00000492684.1:p.Ser1326Ter
ENST00000639435.1:c.4664C>A (BIVM-ERCC5)	ENSP00000491742.1:p.Ser1555Ter
ENST00000651002.1:c.*3063C>A (ERCC5)	ENSP00000498809.1:n.*3063C>A
ENST00000651055.1:n.3429C>A (ERCC5)
ENST00000651281.1:n.3670C>A (ERCC5)
ENST00000651387.1:n.2786C>A (ERCC5)
ENST00000651470.1:c.*474C>A (ERCC5)	ENSP00000498701.1:n.*474C>A
ENST00000652225.2:c.3302C>A (ERCC5) MANE Select	ENSP00000498881.2:p.Ser1101Ter
ENST00000652613.1:c.2798C>A (ERCC5)	ENSP00000498357.1:p.Ser933Ter
ENST00000355739.8:c.3302C>A (ERCC5)	ENSP00000347978.4:p.Ser1101Ter
ENST00000375954.1:c.1001C>A (ERCC5)	ENSP00000365121.1:p.Ser334Ter
ENST00000472247.1:n.462C>A (ERCC5)
ENST00000610537.4:c.3299C>A (ERCC5)	ENSP00000478667.1:p.Ser1100Ter
NM_000123.3:c.3302C>A , LRG_464t1:c.3302C>A (ERCC5)	NP_000114.2:p.Ser1101Ter
NM_001204425.1:c.4664C>A (BIVM-ERCC5)	NP_001191354.1:p.Ser1555Ter
NM_000123.4:c.3302C>A (ERCC5) MANE Select	NP_000114.3:p.Ser1101Ter
NM_001204425.2:c.4664C>A (BIVM-ERCC5)	NP_001191354.2:p.Ser1555Ter