Canonical Allele Identifier: CA255207615

Gene: BIVM-ERCC5 ERCC5

Linked Data

• dbSNP Id: rs576636401
• gnomAD v2: 13-103498103-G-C
• gnomAD v3: 13-102845753-G-C
• gnomAD v4: 13-102845753-G-C
• MyVariant Identifiers: chr13:g.103498103G>C (hg19) ; chr13:g.102845753G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102845753G>C , CM000675.2:g.102845753G>C	GRCh38
NC_000013.10:g.103498103G>C , CM000675.1:g.103498103G>C	GRCh37
NC_000013.9:g.102296104G>C	NCBI36
NG_007146.1:g.4930G>C , LRG_464:g.4930G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638434.1:c.363-8004G>C (BIVM-ERCC5)
ENST00000639118.1:c.363-3365G>C (BIVM-ERCC5)
ENST00000639132.1:c.763+5950G>C (BIVM-ERCC5)	ENSP00000492684.1:n.763+5950G>C
ENST00000639435.1:c.1450+5950G>C (BIVM-ERCC5)	ENSP00000491742.1:n.1450+5950G>C
ENST00000355739.8:c.-514G>C (ERCC5)	ENSP00000347978.4:n.-514G>C
ENST00000602836.1:c.1364+5950G>C (BIVM-ERCC5)
NM_001204425.1:c.1450+5950G>C (BIVM-ERCC5)	NP_001191354.1:n.1450+5950G>C
NM_001204425.2:c.1450+5950G>C (BIVM-ERCC5)	NP_001191354.2:n.1450+5950G>C