Canonical Allele Identifier: CA388675061

Gene: ERCC5 BIVM-ERCC5

Linked Data

• MyVariant Identifiers: chr13:g.103527985A>T (hg19) ; chr13:g.102875635A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102875635A>T , CM000675.2:g.102875635A>T	GRCh38
NC_000013.10:g.103527985A>T , CM000675.1:g.103527985A>T	GRCh37
NC_000013.9:g.102325986A>T	NCBI36
NG_007146.1:g.34812A>T , LRG_464:g.34812A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.4394A>T (ERCC5)
ENST00000682869.1:n.3942A>T (ERCC5)
ENST00000683246.1:n.4930A>T (ERCC5)
ENST00000683642.1:n.3523A>T (ERCC5)
ENST00000639132.1:c.3968A>T (BIVM-ERCC5)	ENSP00000492684.1:p.Asp1323Val
ENST00000639435.1:c.4655A>T (BIVM-ERCC5)	ENSP00000491742.1:p.Asp1552Val
ENST00000651002.1:c.*3054A>T (ERCC5)	ENSP00000498809.1:n.*3054A>T
ENST00000651055.1:n.3420A>T (ERCC5)
ENST00000651281.1:n.3661A>T (ERCC5)
ENST00000651387.1:n.2777A>T (ERCC5)
ENST00000651470.1:c.*465A>T (ERCC5)	ENSP00000498701.1:n.*465A>T
ENST00000652225.2:c.3293A>T (ERCC5) MANE Select	ENSP00000498881.2:p.Asp1098Val
ENST00000652613.1:c.2789A>T (ERCC5)	ENSP00000498357.1:p.Asp930Val
ENST00000355739.8:c.3293A>T (ERCC5)	ENSP00000347978.4:p.Asp1098Val
ENST00000375954.1:c.992A>T (ERCC5)	ENSP00000365121.1:p.Asp331Val
ENST00000472247.1:n.453A>T (ERCC5)
ENST00000610537.4:c.3290A>T (ERCC5)	ENSP00000478667.1:p.Asp1097Val
NM_000123.3:c.3293A>T , LRG_464t1:c.3293A>T (ERCC5)	NP_000114.2:p.Asp1098Val
NM_001204425.1:c.4655A>T (BIVM-ERCC5)	NP_001191354.1:p.Asp1552Val
NM_000123.4:c.3293A>T (ERCC5) MANE Select	NP_000114.3:p.Asp1098Val
NM_001204425.2:c.4655A>T (BIVM-ERCC5)	NP_001191354.2:p.Asp1552Val