Canonical Allele Identifier: CA2115202988

Gene: BIVM-ERCC5 ERCC5

Linked Data

• dbSNP Id: rs1881918331

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102845584G>C , CM000675.2:g.102845584G>C	GRCh38
NC_000013.10:g.103497934G>C , CM000675.1:g.103497934G>C	GRCh37
NC_000013.9:g.102295935G>C	NCBI36
NG_007146.1:g.4761G>C , LRG_464:g.4761G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638434.1:c.363-8173G>C (BIVM-ERCC5)
ENST00000639118.1:c.363-3534G>C (BIVM-ERCC5)
ENST00000639132.1:c.763+5781G>C (BIVM-ERCC5)	ENSP00000492684.1:n.763+5781G>C
ENST00000639435.1:c.1450+5781G>C (BIVM-ERCC5)	ENSP00000491742.1:n.1450+5781G>C
ENST00000355739.8:c.-683G>C (ERCC5)	ENSP00000347978.4:n.-683G>C
ENST00000602836.1:c.1364+5781G>C (BIVM-ERCC5)
NM_001204425.1:c.1450+5781G>C (BIVM-ERCC5)	NP_001191354.1:n.1450+5781G>C
NM_001204425.2:c.1450+5781G>C (BIVM-ERCC5)	NP_001191354.2:n.1450+5781G>C