Canonical Allele Identifier: CA128789366
Gene: PURA HGNC NCBI

Linked Data

dbSNP Id: rs944696207
gnomAD v3: 5-140114018-C-T
gnomAD v4: 5-140114018-C-T
MyVariant Identifiers: chr5:g.139493603C>T (hg19) chr5:g.140114018C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114018C>T , CM000667.2:g.140114018C>T GRCh38
NC_000005.9:g.139493603C>T , CM000667.1:g.139493603C>T GRCh37
NC_000005.8:g.139473787C>T NCBI36
NG_041813.1:g.4896C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000505703.2:c.-141-23C>T ENSP00000498560.1:n.-141-23C>T
ENST00000651386.1:c.-141-23C>T ENSP00000499133.1:n.-141-23C>T
ENST00000502351.1:n.283-23C>T
ENST00000505703.1:n.325-23C>T
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