Canonical Allele Identifier: CA2623612582

Gene: ERCC5 BIVM-ERCC5

Linked Data

• gnomAD v4: 13-102873185-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102873185G>T , CM000675.2:g.102873185G>T	GRCh38
NC_000013.10:g.103525535G>T , CM000675.1:g.103525535G>T	GRCh37
NC_000013.9:g.102323536G>T	NCBI36
NG_007146.1:g.32362G>T , LRG_464:g.32362G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682632.1:n.3907G>T (ERCC5)
ENST00000682869.1:n.3529-74G>T (ERCC5)
ENST00000683246.1:n.4443G>T (ERCC5)
ENST00000683642.1:n.3036G>T (ERCC5)
ENST00000639132.1:c.3555-74G>T (BIVM-ERCC5)	ENSP00000492684.1:n.3555-74G>T
ENST00000639435.1:c.4242-74G>T (BIVM-ERCC5)	ENSP00000491742.1:n.4242-74G>T
ENST00000651002.1:c.*2641-74G>T (ERCC5)	ENSP00000498809.1:n.*2641-74G>T
ENST00000651055.1:n.3009-76G>T (ERCC5)
ENST00000651281.1:n.3248-74G>T (ERCC5)
ENST00000651387.1:n.2364-74G>T (ERCC5)
ENST00000651470.1:c.*52-74G>T (ERCC5)	ENSP00000498701.1:n.*52-74G>T
ENST00000652225.2:c.2880-74G>T (ERCC5) MANE Select	ENSP00000498881.2:n.2880-74G>T
ENST00000652613.1:c.2376-74G>T (ERCC5)	ENSP00000498357.1:n.2376-74G>T
ENST00000355739.8:c.2880-74G>T (ERCC5)	ENSP00000347978.4:n.2880-74G>T
ENST00000375954.1:c.579-74G>T (ERCC5)	ENSP00000365121.1:n.579-74G>T
ENST00000610537.4:c.2877-74G>T (ERCC5)	ENSP00000478667.1:n.2877-74G>T
NM_000123.3:c.2880-74G>T , LRG_464t1:c.2880-74G>T (ERCC5)	NP_000114.2:n.2880-74G>T
NM_001204425.1:c.4242-74G>T (BIVM-ERCC5)	NP_001191354.1:n.4242-74G>T
NM_000123.4:c.2880-74G>T (ERCC5) MANE Select	NP_000114.3:n.2880-74G>T
NM_001204425.2:c.4242-74G>T (BIVM-ERCC5)	NP_001191354.2:n.4242-74G>T