Canonical Allele Identifier: CA959656991

Gene: BIVM-ERCC5 ERCC5

Linked Data

• dbSNP Id: rs1181963742

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102845673T>C , CM000675.2:g.102845673T>C	GRCh38
NC_000013.10:g.103498023T>C , CM000675.1:g.103498023T>C	GRCh37
NC_000013.9:g.102296024T>C	NCBI36
NG_007146.1:g.4850T>C , LRG_464:g.4850T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638434.1:c.363-8084T>C (BIVM-ERCC5)
ENST00000639118.1:c.363-3445T>C (BIVM-ERCC5)
ENST00000639132.1:c.763+5870T>C (BIVM-ERCC5)	ENSP00000492684.1:n.763+5870T>C
ENST00000639435.1:c.1450+5870T>C (BIVM-ERCC5)	ENSP00000491742.1:n.1450+5870T>C
ENST00000355739.8:c.-594T>C (ERCC5)	ENSP00000347978.4:n.-594T>C
ENST00000602836.1:c.1364+5870T>C (BIVM-ERCC5)
NM_001204425.1:c.1450+5870T>C (BIVM-ERCC5)	NP_001191354.1:n.1450+5870T>C
NM_001204425.2:c.1450+5870T>C (BIVM-ERCC5)	NP_001191354.2:n.1450+5870T>C