Canonical Allele Identifier: CA484983760

Gene: ERCC5 BIVM-ERCC5

Linked Data

• MyVariant Identifiers: chr13:g.103527995A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102875645A>G , CM000675.2:g.102875645A>G	GRCh38
NC_000013.10:g.103527995A>G , CM000675.1:g.103527995A>G	GRCh37
NC_000013.9:g.102325996A>G	NCBI36
NG_007146.1:g.34822A>G , LRG_464:g.34822A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.4404A>G (ERCC5)
ENST00000682869.1:n.3952A>G (ERCC5)
ENST00000683246.1:n.4940A>G (ERCC5)
ENST00000683642.1:n.3533A>G (ERCC5)
ENST00000639132.1:c.3978A>G (BIVM-ERCC5)	ENSP00000492684.1:p.Ser1326=
ENST00000639435.1:c.4665A>G (BIVM-ERCC5)	ENSP00000491742.1:p.Ser1555=
ENST00000651002.1:c.*3064A>G (ERCC5)	ENSP00000498809.1:n.*3064A>G
ENST00000651055.1:n.3430A>G (ERCC5)
ENST00000651281.1:n.3671A>G (ERCC5)
ENST00000651387.1:n.2787A>G (ERCC5)
ENST00000651470.1:c.*475A>G (ERCC5)	ENSP00000498701.1:n.*475A>G
ENST00000652225.2:c.3303A>G (ERCC5) MANE Select	ENSP00000498881.2:p.Ser1101=
ENST00000652613.1:c.2799A>G (ERCC5)	ENSP00000498357.1:p.Ser933=
ENST00000355739.8:c.3303A>G (ERCC5)	ENSP00000347978.4:p.Ser1101=
ENST00000375954.1:c.1002A>G (ERCC5)	ENSP00000365121.1:p.Ser334=
ENST00000472247.1:n.463A>G (ERCC5)
ENST00000610537.4:c.3300A>G (ERCC5)	ENSP00000478667.1:p.Ser1100=
NM_000123.3:c.3303A>G , LRG_464t1:c.3303A>G (ERCC5)	NP_000114.2:p.Ser1101=
NM_001204425.1:c.4665A>G (BIVM-ERCC5)	NP_001191354.1:p.Ser1555=
NM_000123.4:c.3303A>G (ERCC5) MANE Select	NP_000114.3:p.Ser1101=
NM_001204425.2:c.4665A>G (BIVM-ERCC5)	NP_001191354.2:p.Ser1555=