Canonical Allele Identifier: CA484983789

Gene: ERCC5 BIVM-ERCC5

Linked Data

• MyVariant Identifiers: chr13:g.103528007T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102875657T>G , CM000675.2:g.102875657T>G	GRCh38
NC_000013.10:g.103528007T>G , CM000675.1:g.103528007T>G	GRCh37
NC_000013.9:g.102326008T>G	NCBI36
NG_007146.1:g.34834T>G , LRG_464:g.34834T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682632.1:n.4416T>G (ERCC5)
ENST00000682869.1:n.3964T>G (ERCC5)
ENST00000683246.1:n.4952T>G (ERCC5)
ENST00000683642.1:n.3545T>G (ERCC5)
ENST00000639132.1:c.3990T>G (BIVM-ERCC5)	ENSP00000492684.1:p.Ala1330=
ENST00000639435.1:c.4677T>G (BIVM-ERCC5)	ENSP00000491742.1:p.Ala1559=
ENST00000651002.1:c.*3076T>G (ERCC5)	ENSP00000498809.1:n.*3076T>G
ENST00000651055.1:n.3442T>G (ERCC5)
ENST00000651281.1:n.3683T>G (ERCC5)
ENST00000651387.1:n.2799T>G (ERCC5)
ENST00000651470.1:c.*487T>G (ERCC5)	ENSP00000498701.1:n.*487T>G
ENST00000652225.2:c.3315T>G (ERCC5) MANE Select	ENSP00000498881.2:p.Ala1105=
ENST00000652613.1:c.2811T>G (ERCC5)	ENSP00000498357.1:p.Ala937=
ENST00000355739.8:c.3315T>G (ERCC5)	ENSP00000347978.4:p.Ala1105=
ENST00000375954.1:c.1014T>G (ERCC5)	ENSP00000365121.1:p.Ala338=
ENST00000472247.1:n.475T>G (ERCC5)
ENST00000610537.4:c.3312T>G (ERCC5)	ENSP00000478667.1:p.Ala1104=
NM_000123.3:c.3315T>G , LRG_464t1:c.3315T>G (ERCC5)	NP_000114.2:p.Ala1105=
NM_001204425.1:c.4677T>G (BIVM-ERCC5)	NP_001191354.1:p.Ala1559=
NM_000123.4:c.3315T>G (ERCC5) MANE Select	NP_000114.3:p.Ala1105=
NM_001204425.2:c.4677T>G (BIVM-ERCC5)	NP_001191354.2:p.Ala1559=