Canonical Allele Identifier: CA2623613271

Gene: ERCC5 BIVM-ERCC5

Linked Data

• gnomAD v4: 13-102845932-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102845932C>A , CM000675.2:g.102845932C>A	GRCh38
NC_000013.10:g.103498282C>A , CM000675.1:g.103498282C>A	GRCh37
NC_000013.9:g.102296283C>A	NCBI36
NG_007146.1:g.5109C>A , LRG_464:g.5109C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000683246.1:n.28C>A (ERCC5)
ENST00000638434.1:c.363-7825C>A (BIVM-ERCC5)
ENST00000639118.1:c.363-3186C>A (BIVM-ERCC5)
ENST00000639132.1:c.763+6129C>A (BIVM-ERCC5)	ENSP00000492684.1:n.763+6129C>A
ENST00000639435.1:c.1450+6129C>A (BIVM-ERCC5)	ENSP00000491742.1:n.1450+6129C>A
ENST00000651002.1:c.-335C>A (ERCC5)	ENSP00000498809.1:n.-335C>A
ENST00000652613.1:c.-832C>A (ERCC5)	ENSP00000498357.1:n.-832C>A
ENST00000355739.8:c.-335C>A (ERCC5)	ENSP00000347978.4:n.-335C>A
ENST00000535557.5:c.-335C>A (ERCC5)	ENSP00000442117.1:n.-335C>A
ENST00000602836.1:c.1364+6129C>A (BIVM-ERCC5)
NM_000123.3:c.-335C>A , LRG_464t1:c.-335C>A (ERCC5)	NP_000114.2:n.-335C>A
NM_001204425.1:c.1450+6129C>A (BIVM-ERCC5)	NP_001191354.1:n.1450+6129C>A
NM_001204425.2:c.1450+6129C>A (BIVM-ERCC5)	NP_001191354.2:n.1450+6129C>A