Canonical Allele Identifier: CA7041107

Gene: ERCC5 BIVM-ERCC5

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102853786G>A , CM000675.2:g.102853786G>A	GRCh38
NC_000013.10:g.103506136G>A , CM000675.1:g.103506136G>A	GRCh37
NC_000013.9:g.102304137G>A	NCBI36
NG_007146.1:g.12963G>A , LRG_464:g.12963G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000123.4:c.294G>A (ERCC5) MANE Select	NP_000114.3:p.Ala98=
ENST00000652225.2:c.294G>A (ERCC5) MANE Select	ENSP00000498881.2:p.Ala98=
NM_000123.3:c.294G>A , LRG_464t1:c.294G>A (ERCC5)	NP_000114.2:p.Ala98=
NM_001204425.1:c.1656G>A (BIVM-ERCC5)	NP_001191354.1:p.Ala552=
NM_001204425.2:c.1656G>A (BIVM-ERCC5)	NP_001191354.2:p.Ala552=
ENST00000355739.8:c.294G>A (ERCC5)	ENSP00000347978.4:p.Ala98=
ENST00000375958.3:n.449G>A (ERCC5)
ENST00000472151.1:c.*199G>A (ERCC5)	ENSP00000436083.1:n.*199G>A
ENST00000535557.5:c.294G>A (ERCC5)	ENSP00000442117.1:p.Ala98=
ENST00000602836.1:c.1570G>A (BIVM-ERCC5)
ENST00000610537.4:c.294G>A (ERCC5)	ENSP00000478667.1:p.Ala98=
ENST00000638434.1:c.392G>A (BIVM-ERCC5)
ENST00000639118.1:c.645G>A (BIVM-ERCC5)
ENST00000639132.1:c.969G>A (BIVM-ERCC5)	ENSP00000492684.1:p.Ala323=
ENST00000639435.1:c.1656G>A (BIVM-ERCC5)	ENSP00000491742.1:p.Ala552=
ENST00000651002.1:c.294G>A (ERCC5)	ENSP00000498809.1:p.Ala98=
ENST00000651055.1:n.423G>A (ERCC5)
ENST00000651281.1:n.662G>A (ERCC5)
ENST00000651470.1:c.294G>A (ERCC5)	ENSP00000498701.1:p.Ala98=
ENST00000652613.1:c.-211G>A (ERCC5)	ENSP00000498357.1:n.-211G>A
ENST00000682632.1:n.535G>A (ERCC5)
ENST00000682869.1:n.528G>A (ERCC5)
ENST00000683246.1:n.656G>A (ERCC5)
ENST00000684184.1:n.525G>A (ERCC5)