Canonical Allele Identifier: CA484983437
Gene: ERCC5 HGNC NCBI
BIVM-ERCC5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.103527926T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.102875576T>C , CM000675.2:g.102875576T>C GRCh38
NC_000013.10:g.103527926T>C , CM000675.1:g.103527926T>C GRCh37
NC_000013.9:g.102325927T>C NCBI36
NG_007146.1:g.34753T>C , LRG_464:g.34753T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682632.1:n.4335T>C (ERCC5)
ENST00000682869.1:n.3883T>C (ERCC5)
ENST00000683246.1:n.4871T>C (ERCC5)
ENST00000683642.1:n.3464T>C (ERCC5)
ENST00000639132.1:c.3909T>C (BIVM-ERCC5) ENSP00000492684.1:p.Ser1303=
ENST00000639435.1:c.4596T>C (BIVM-ERCC5) ENSP00000491742.1:p.Ser1532=
ENST00000651002.1:c.*2995T>C (ERCC5) ENSP00000498809.1:n.*2995T>C
ENST00000651055.1:n.3361T>C (ERCC5)
ENST00000651281.1:n.3602T>C (ERCC5)
ENST00000651387.1:n.2718T>C (ERCC5)
ENST00000651470.1:c.*406T>C (ERCC5) ENSP00000498701.1:n.*406T>C
ENST00000652225.2:c.3234T>C (ERCC5) MANE Select ENSP00000498881.2:p.Ser1078=
ENST00000652613.1:c.2730T>C (ERCC5) ENSP00000498357.1:p.Ser910=
ENST00000355739.8:c.3234T>C (ERCC5) ENSP00000347978.4:p.Ser1078=
ENST00000375954.1:c.933T>C (ERCC5) ENSP00000365121.1:p.Ser311=
ENST00000472247.1:n.394T>C (ERCC5)
ENST00000610537.4:c.3231T>C (ERCC5) ENSP00000478667.1:p.Ser1077=
NM_000123.3:c.3234T>C , LRG_464t1:c.3234T>C (ERCC5) NP_000114.2:p.Ser1078=
NM_001204425.1:c.4596T>C (BIVM-ERCC5) NP_001191354.1:p.Ser1532=
NM_000123.4:c.3234T>C (ERCC5) MANE Select NP_000114.3:p.Ser1078=
NM_001204425.2:c.4596T>C (BIVM-ERCC5) NP_001191354.2:p.Ser1532=