Canonical Allele Identifier: CA1586592299

Gene: PURA

Linked Data

• dbSNP Id: rs1432525330
• gnomAD v4: 5-140113982-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140113982A>C , CM000667.2:g.140113982A>C	GRCh38
NC_000005.9:g.139493567A>C , CM000667.1:g.139493567A>C	GRCh37
NC_000005.8:g.139473751A>C	NCBI36
NG_041813.1:g.4860A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505703.2:c.-141-59A>C	ENSP00000498560.1:n.-141-59A>C
ENST00000651386.1:c.-141-59A>C	ENSP00000499133.1:n.-141-59A>C
ENST00000502351.1:n.283-59A>C
ENST00000505703.1:n.325-59A>C