Canonical Allele Identifier: CA915213703
Gene: PURA HGNC NCBI

Linked Data

dbSNP Id: rs1763028114
gnomAD v2: 5-139493573-C-T
gnomAD v3: 5-140113988-C-T
gnomAD v4: 5-140113988-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140113988C>T , CM000667.2:g.140113988C>T GRCh38
NC_000005.9:g.139493573C>T , CM000667.1:g.139493573C>T GRCh37
NC_000005.8:g.139473757C>T NCBI36
NG_041813.1:g.4866C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000505703.2:c.-141-53C>T ENSP00000498560.1:n.-141-53C>T
ENST00000651386.1:c.-141-53C>T ENSP00000499133.1:n.-141-53C>T
ENST00000502351.1:n.283-53C>T
ENST00000505703.1:n.325-53C>T
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