Canonical Allele Identifier: CA484859205
Gene: ERCC5 HGNC NCBI
BIVM-ERCC5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.103525636C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.102873286C>T , CM000675.2:g.102873286C>T GRCh38
NC_000013.10:g.103525636C>T , CM000675.1:g.103525636C>T GRCh37
NC_000013.9:g.102323637C>T NCBI36
NG_007146.1:g.32463C>T , LRG_464:g.32463C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682632.1:n.4008C>T (ERCC5)
ENST00000682869.1:n.3556C>T (ERCC5)
ENST00000683246.1:n.4544C>T (ERCC5)
ENST00000683642.1:n.3137C>T (ERCC5)
ENST00000639132.1:c.3582C>T (BIVM-ERCC5) ENSP00000492684.1:p.Asn1194=
ENST00000639435.1:c.4269C>T (BIVM-ERCC5) ENSP00000491742.1:p.Asn1423=
ENST00000651002.1:c.*2668C>T (ERCC5) ENSP00000498809.1:n.*2668C>T
ENST00000651055.1:n.3034C>T (ERCC5)
ENST00000651281.1:n.3275C>T (ERCC5)
ENST00000651387.1:n.2391C>T (ERCC5)
ENST00000651470.1:c.*79C>T (ERCC5) ENSP00000498701.1:n.*79C>T
ENST00000652225.2:c.2907C>T (ERCC5) MANE Select ENSP00000498881.2:p.Asn969=
ENST00000652613.1:c.2403C>T (ERCC5) ENSP00000498357.1:p.Asn801=
ENST00000355739.8:c.2907C>T (ERCC5) ENSP00000347978.4:p.Asn969=
ENST00000375954.1:c.606C>T (ERCC5) ENSP00000365121.1:p.Asn202=
ENST00000610537.4:c.2904C>T (ERCC5) ENSP00000478667.1:p.Asn968=
NM_000123.3:c.2907C>T , LRG_464t1:c.2907C>T (ERCC5) NP_000114.2:p.Asn969=
NM_001204425.1:c.4269C>T (BIVM-ERCC5) NP_001191354.1:p.Asn1423=
NM_000123.4:c.2907C>T (ERCC5) MANE Select NP_000114.3:p.Asn969=
NM_001204425.2:c.4269C>T (BIVM-ERCC5) NP_001191354.2:p.Asn1423=