Canonical Allele Identifier: CA2623612914

Gene: BIVM-ERCC5 ERCC5

Linked Data

• gnomAD v4: 13-102845833-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102845833G>A , CM000675.2:g.102845833G>A	GRCh38
NC_000013.10:g.103498183G>A , CM000675.1:g.103498183G>A	GRCh37
NC_000013.9:g.102296184G>A	NCBI36
NG_007146.1:g.5010G>A , LRG_464:g.5010G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638434.1:c.363-7924G>A (BIVM-ERCC5)
ENST00000639118.1:c.363-3285G>A (BIVM-ERCC5)
ENST00000639132.1:c.763+6030G>A (BIVM-ERCC5)	ENSP00000492684.1:n.763+6030G>A
ENST00000639435.1:c.1450+6030G>A (BIVM-ERCC5)	ENSP00000491742.1:n.1450+6030G>A
ENST00000651002.1:c.-434G>A (ERCC5)	ENSP00000498809.1:n.-434G>A
ENST00000355739.8:c.-434G>A (ERCC5)	ENSP00000347978.4:n.-434G>A
ENST00000602836.1:c.1364+6030G>A (BIVM-ERCC5)
NM_001204425.1:c.1450+6030G>A (BIVM-ERCC5)	NP_001191354.1:n.1450+6030G>A
NM_001204425.2:c.1450+6030G>A (BIVM-ERCC5)	NP_001191354.2:n.1450+6030G>A