Canonical Allele Identifier: CA255207625

Gene: BIVM-ERCC5 ERCC5

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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