Canonical Allele Identifier: CA484859212

Gene: ERCC5 BIVM-ERCC5

Linked Data

• MyVariant Identifiers: chr13:g.103525648A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102873298A>G , CM000675.2:g.102873298A>G	GRCh38
NC_000013.10:g.103525648A>G , CM000675.1:g.103525648A>G	GRCh37
NC_000013.9:g.102323649A>G	NCBI36
NG_007146.1:g.32475A>G , LRG_464:g.32475A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682632.1:n.4020A>G (ERCC5)
ENST00000682869.1:n.3568A>G (ERCC5)
ENST00000683246.1:n.4556A>G (ERCC5)
ENST00000683642.1:n.3149A>G (ERCC5)
ENST00000639132.1:c.3594A>G (BIVM-ERCC5)	ENSP00000492684.1:p.Thr1198=
ENST00000639435.1:c.4281A>G (BIVM-ERCC5)	ENSP00000491742.1:p.Thr1427=
ENST00000651002.1:c.*2680A>G (ERCC5)	ENSP00000498809.1:n.*2680A>G
ENST00000651055.1:n.3046A>G (ERCC5)
ENST00000651281.1:n.3287A>G (ERCC5)
ENST00000651387.1:n.2403A>G (ERCC5)
ENST00000651470.1:c.*91A>G (ERCC5)	ENSP00000498701.1:n.*91A>G
ENST00000652225.2:c.2919A>G (ERCC5) MANE Select	ENSP00000498881.2:p.Thr973=
ENST00000652613.1:c.2415A>G (ERCC5)	ENSP00000498357.1:p.Thr805=
ENST00000355739.8:c.2919A>G (ERCC5)	ENSP00000347978.4:p.Thr973=
ENST00000375954.1:c.618A>G (ERCC5)	ENSP00000365121.1:p.Thr206=
ENST00000610537.4:c.2916A>G (ERCC5)	ENSP00000478667.1:p.Thr972=
NM_000123.3:c.2919A>G , LRG_464t1:c.2919A>G (ERCC5)	NP_000114.2:p.Thr973=
NM_001204425.1:c.4281A>G (BIVM-ERCC5)	NP_001191354.1:p.Thr1427=
NM_000123.4:c.2919A>G (ERCC5) MANE Select	NP_000114.3:p.Thr973=
NM_001204425.2:c.4281A>G (BIVM-ERCC5)	NP_001191354.2:p.Thr1427=