Canonical Allele Identifier: CA1586592323

Gene: PURA

Linked Data

• dbSNP Id: rs1763028185

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140113991G>C , CM000667.2:g.140113991G>C	GRCh38
NC_000005.9:g.139493576G>C , CM000667.1:g.139493576G>C	GRCh37
NC_000005.8:g.139473760G>C	NCBI36
NG_041813.1:g.4869G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505703.2:c.-141-50G>C	ENSP00000498560.1:n.-141-50G>C
ENST00000651386.1:c.-141-50G>C	ENSP00000499133.1:n.-141-50G>C
ENST00000502351.1:n.283-50G>C
ENST00000505703.1:n.325-50G>C