Canonical Allele Identifier: CA255208060

Gene: ERCC5 BIVM-ERCC5

Linked Data

• dbSNP Id: rs984737017
• gnomAD v4: 13-102846071-C-T
• MyVariant Identifiers: chr13:g.103498421C>T (hg19) ; chr13:g.102846071C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102846071C>T , CM000675.2:g.102846071C>T	GRCh38
NC_000013.10:g.103498421C>T , CM000675.1:g.103498421C>T	GRCh37
NC_000013.9:g.102296422C>T	NCBI36
NG_007146.1:g.5248C>T , LRG_464:g.5248C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.46C>T (ERCC5)
ENST00000682869.1:n.39C>T (ERCC5)
ENST00000683246.1:n.167C>T (ERCC5)
ENST00000684184.1:n.36C>T (ERCC5)
ENST00000638434.1:c.363-7686C>T (BIVM-ERCC5)
ENST00000639118.1:c.363-3047C>T (BIVM-ERCC5)
ENST00000639132.1:c.764-6047C>T (BIVM-ERCC5)	ENSP00000492684.1:n.764-6047C>T
ENST00000639435.1:c.1451-6047C>T (BIVM-ERCC5)	ENSP00000491742.1:n.1451-6047C>T
ENST00000651002.1:c.-196C>T (ERCC5)	ENSP00000498809.1:n.-196C>T
ENST00000652225.2:c.-196C>T (ERCC5) MANE Select	ENSP00000498881.2:n.-196C>T
ENST00000652613.1:c.-693C>T (ERCC5)	ENSP00000498357.1:n.-693C>T
ENST00000355739.8:c.-196C>T (ERCC5)	ENSP00000347978.4:n.-196C>T
ENST00000472151.1:c.-196C>T (ERCC5)	ENSP00000436083.1:n.-196C>T
ENST00000535557.5:c.-196C>T (ERCC5)	ENSP00000442117.1:n.-196C>T
ENST00000602836.1:c.1365-6047C>T (BIVM-ERCC5)
NM_000123.3:c.-196C>T , LRG_464t1:c.-196C>T (ERCC5)	NP_000114.2:n.-196C>T
NM_001204425.1:c.1451-6047C>T (BIVM-ERCC5)	NP_001191354.1:n.1451-6047C>T
NM_000123.4:c.-196C>T (ERCC5) MANE Select	NP_000114.3:n.-196C>T
NM_001204425.2:c.1451-6047C>T (BIVM-ERCC5)	NP_001191354.2:n.1451-6047C>T