Canonical Allele Identifier: CA388674797

Gene: ERCC5 BIVM-ERCC5

Linked Data

• MyVariant Identifiers: chr13:g.103527861A>G (hg19) ; chr13:g.102875511A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102875511A>G , CM000675.2:g.102875511A>G	GRCh38
NC_000013.10:g.103527861A>G , CM000675.1:g.103527861A>G	GRCh37
NC_000013.9:g.102325862A>G	NCBI36
NG_007146.1:g.34688A>G , LRG_464:g.34688A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.4270A>G (ERCC5)
ENST00000682869.1:n.3818A>G (ERCC5)
ENST00000683246.1:n.4806A>G (ERCC5)
ENST00000683642.1:n.3399A>G (ERCC5)
ENST00000639132.1:c.3844A>G (BIVM-ERCC5)	ENSP00000492684.1:p.Lys1282Glu
ENST00000639435.1:c.4531A>G (BIVM-ERCC5)	ENSP00000491742.1:p.Lys1511Glu
ENST00000651002.1:c.*2930A>G (ERCC5)	ENSP00000498809.1:n.*2930A>G
ENST00000651055.1:n.3296A>G (ERCC5)
ENST00000651281.1:n.3537A>G (ERCC5)
ENST00000651387.1:n.2653A>G (ERCC5)
ENST00000651470.1:c.*341A>G (ERCC5)	ENSP00000498701.1:n.*341A>G
ENST00000652225.2:c.3169A>G (ERCC5) MANE Select	ENSP00000498881.2:p.Lys1057Glu
ENST00000652613.1:c.2665A>G (ERCC5)	ENSP00000498357.1:p.Lys889Glu
ENST00000355739.8:c.3169A>G (ERCC5)	ENSP00000347978.4:p.Lys1057Glu
ENST00000375954.1:c.868A>G (ERCC5)	ENSP00000365121.1:p.Lys290Glu
ENST00000472247.1:n.329A>G (ERCC5)
ENST00000610537.4:c.3166A>G (ERCC5)	ENSP00000478667.1:p.Lys1056Glu
NM_000123.3:c.3169A>G , LRG_464t1:c.3169A>G (ERCC5)	NP_000114.2:p.Lys1057Glu
NM_001204425.1:c.4531A>G (BIVM-ERCC5)	NP_001191354.1:p.Lys1511Glu
NM_000123.4:c.3169A>G (ERCC5) MANE Select	NP_000114.3:p.Lys1057Glu
NM_001204425.2:c.4531A>G (BIVM-ERCC5)	NP_001191354.2:p.Lys1511Glu