Canonical Allele Identifier: CA1586592409
Gene: PURA HGNC NCBI

Linked Data

dbSNP Id: rs1763029970
gnomAD v4: 5-140114036-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114036C>T , CM000667.2:g.140114036C>T GRCh38
NC_000005.9:g.139493621C>T , CM000667.1:g.139493621C>T GRCh37
NC_000005.8:g.139473805C>T NCBI36
NG_041813.1:g.4914C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000505703.2:c.-141-5C>T ENSP00000498560.1:n.-141-5C>T
ENST00000651386.1:c.-141-5C>T ENSP00000499133.1:n.-141-5C>T
ENST00000502351.1:n.283-5C>T
ENST00000505703.1:n.325-5C>T
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