Canonical Allele Identifier: CA694374620

Gene: BIVM-ERCC5 ERCC5

Linked Data

• dbSNP Id: rs948049429
• gnomAD v3: 13-102845728-A-C
• gnomAD v4: 13-102845728-A-C
• MyVariant Identifiers: chr13:g.103498078A>C (hg19) ; chr13:g.102845728A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102845728A>C , CM000675.2:g.102845728A>C	GRCh38
NC_000013.10:g.103498078A>C , CM000675.1:g.103498078A>C	GRCh37
NC_000013.9:g.102296079A>C	NCBI36
NG_007146.1:g.4905A>C , LRG_464:g.4905A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638434.1:c.363-8029A>C (BIVM-ERCC5)
ENST00000639118.1:c.363-3390A>C (BIVM-ERCC5)
ENST00000639132.1:c.763+5925A>C (BIVM-ERCC5)	ENSP00000492684.1:n.763+5925A>C
ENST00000639435.1:c.1450+5925A>C (BIVM-ERCC5)	ENSP00000491742.1:n.1450+5925A>C
ENST00000355739.8:c.-539A>C (ERCC5)	ENSP00000347978.4:n.-539A>C
ENST00000602836.1:c.1364+5925A>C (BIVM-ERCC5)
NM_001204425.1:c.1450+5925A>C (BIVM-ERCC5)	NP_001191354.1:n.1450+5925A>C
NM_001204425.2:c.1450+5925A>C (BIVM-ERCC5)	NP_001191354.2:n.1450+5925A>C