Canonical Allele Identifier: CA7041783

Gene: ERCC5 BIVM-ERCC5

Linked Data

• dbSNP Id: rs767318624
• ExAC: 13:103525599 C / T
• gnomAD v2: 13-103525599-C-T
• gnomAD v4: 13-102873249-C-T
• MyVariant Identifiers: chr13:g.103525599C>T (hg19) ; chr13:g.102873249C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102873249C>T , CM000675.2:g.102873249C>T	GRCh38
NC_000013.10:g.103525599C>T , CM000675.1:g.103525599C>T	GRCh37
NC_000013.9:g.102323600C>T	NCBI36
NG_007146.1:g.32426C>T , LRG_464:g.32426C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.3971C>T (ERCC5)
ENST00000682869.1:n.3529-10C>T (ERCC5)
ENST00000683246.1:n.4507C>T (ERCC5)
ENST00000683642.1:n.3100C>T (ERCC5)
ENST00000639132.1:c.3555-10C>T (BIVM-ERCC5)	ENSP00000492684.1:n.3555-10C>T
ENST00000639435.1:c.4242-10C>T (BIVM-ERCC5)	ENSP00000491742.1:n.4242-10C>T
ENST00000651002.1:c.*2641-10C>T (ERCC5)	ENSP00000498809.1:n.*2641-10C>T
ENST00000651055.1:n.3009-12C>T (ERCC5)
ENST00000651281.1:n.3248-10C>T (ERCC5)
ENST00000651387.1:n.2364-10C>T (ERCC5)
ENST00000651470.1:c.*52-10C>T (ERCC5)	ENSP00000498701.1:n.*52-10C>T
ENST00000652225.2:c.2880-10C>T (ERCC5) MANE Select	ENSP00000498881.2:n.2880-10C>T
ENST00000652613.1:c.2376-10C>T (ERCC5)	ENSP00000498357.1:n.2376-10C>T
ENST00000355739.8:c.2880-10C>T (ERCC5)	ENSP00000347978.4:n.2880-10C>T
ENST00000375954.1:c.579-10C>T (ERCC5)	ENSP00000365121.1:n.579-10C>T
ENST00000610537.4:c.2877-10C>T (ERCC5)	ENSP00000478667.1:n.2877-10C>T
NM_000123.3:c.2880-10C>T , LRG_464t1:c.2880-10C>T (ERCC5)	NP_000114.2:n.2880-10C>T
NM_001204425.1:c.4242-10C>T (BIVM-ERCC5)	NP_001191354.1:n.4242-10C>T
NM_000123.4:c.2880-10C>T (ERCC5) MANE Select	NP_000114.3:n.2880-10C>T
NM_001204425.2:c.4242-10C>T (BIVM-ERCC5)	NP_001191354.2:n.4242-10C>T