Canonical Allele Identifier: CA388675072

Gene: ERCC5 BIVM-ERCC5

Linked Data

• MyVariant Identifiers: chr13:g.103527990T>G (hg19) ; chr13:g.102875640T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102875640T>G , CM000675.2:g.102875640T>G	GRCh38
NC_000013.10:g.103527990T>G , CM000675.1:g.103527990T>G	GRCh37
NC_000013.9:g.102325991T>G	NCBI36
NG_007146.1:g.34817T>G , LRG_464:g.34817T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.4399T>G (ERCC5)
ENST00000682869.1:n.3947T>G (ERCC5)
ENST00000683246.1:n.4935T>G (ERCC5)
ENST00000683642.1:n.3528T>G (ERCC5)
ENST00000639132.1:c.3973T>G (BIVM-ERCC5)	ENSP00000492684.1:p.Ser1325Ala
ENST00000639435.1:c.4660T>G (BIVM-ERCC5)	ENSP00000491742.1:p.Ser1554Ala
ENST00000651002.1:c.*3059T>G (ERCC5)	ENSP00000498809.1:n.*3059T>G
ENST00000651055.1:n.3425T>G (ERCC5)
ENST00000651281.1:n.3666T>G (ERCC5)
ENST00000651387.1:n.2782T>G (ERCC5)
ENST00000651470.1:c.*470T>G (ERCC5)	ENSP00000498701.1:n.*470T>G
ENST00000652225.2:c.3298T>G (ERCC5) MANE Select	ENSP00000498881.2:p.Ser1100Ala
ENST00000652613.1:c.2794T>G (ERCC5)	ENSP00000498357.1:p.Ser932Ala
ENST00000355739.8:c.3298T>G (ERCC5)	ENSP00000347978.4:p.Ser1100Ala
ENST00000375954.1:c.997T>G (ERCC5)	ENSP00000365121.1:p.Ser333Ala
ENST00000472247.1:n.458T>G (ERCC5)
ENST00000610537.4:c.3295T>G (ERCC5)	ENSP00000478667.1:p.Ser1099Ala
NM_000123.3:c.3298T>G , LRG_464t1:c.3298T>G (ERCC5)	NP_000114.2:p.Ser1100Ala
NM_001204425.1:c.4660T>G (BIVM-ERCC5)	NP_001191354.1:p.Ser1554Ala
NM_000123.4:c.3298T>G (ERCC5) MANE Select	NP_000114.3:p.Ser1100Ala
NM_001204425.2:c.4660T>G (BIVM-ERCC5)	NP_001191354.2:p.Ser1554Ala