Canonical Allele Identifier: CA484859201
Gene: ERCC5 HGNC NCBI
BIVM-ERCC5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.103525624T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.102873274T>C , CM000675.2:g.102873274T>C GRCh38
NC_000013.10:g.103525624T>C , CM000675.1:g.103525624T>C GRCh37
NC_000013.9:g.102323625T>C NCBI36
NG_007146.1:g.32451T>C , LRG_464:g.32451T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682632.1:n.3996T>C (ERCC5)
ENST00000682869.1:n.3544T>C (ERCC5)
ENST00000683246.1:n.4532T>C (ERCC5)
ENST00000683642.1:n.3125T>C (ERCC5)
ENST00000639132.1:c.3570T>C (BIVM-ERCC5) ENSP00000492684.1:p.Tyr1190=
ENST00000639435.1:c.4257T>C (BIVM-ERCC5) ENSP00000491742.1:p.Tyr1419=
ENST00000651002.1:c.*2656T>C (ERCC5) ENSP00000498809.1:n.*2656T>C
ENST00000651055.1:n.3022T>C (ERCC5)
ENST00000651281.1:n.3263T>C (ERCC5)
ENST00000651387.1:n.2379T>C (ERCC5)
ENST00000651470.1:c.*67T>C (ERCC5) ENSP00000498701.1:n.*67T>C
ENST00000652225.2:c.2895T>C (ERCC5) MANE Select ENSP00000498881.2:p.Tyr965=
ENST00000652613.1:c.2391T>C (ERCC5) ENSP00000498357.1:p.Tyr797=
ENST00000355739.8:c.2895T>C (ERCC5) ENSP00000347978.4:p.Tyr965=
ENST00000375954.1:c.594T>C (ERCC5) ENSP00000365121.1:p.Tyr198=
ENST00000610537.4:c.2892T>C (ERCC5) ENSP00000478667.1:p.Tyr964=
NM_000123.3:c.2895T>C , LRG_464t1:c.2895T>C (ERCC5) NP_000114.2:p.Tyr965=
NM_001204425.1:c.4257T>C (BIVM-ERCC5) NP_001191354.1:p.Tyr1419=
NM_000123.4:c.2895T>C (ERCC5) MANE Select NP_000114.3:p.Tyr965=
NM_001204425.2:c.4257T>C (BIVM-ERCC5) NP_001191354.2:p.Tyr1419=