Canonical Allele Identifier: CA388675080

Gene: ERCC5 BIVM-ERCC5

Linked Data

• gnomAD v4: 13-102875644-C-G
• MyVariant Identifiers: chr13:g.103527994C>G (hg19) ; chr13:g.102875644C>G (hg38)

Genomic Alleles

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

Transcript Alleles

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