Canonical Allele Identifier: CA2675565048
Gene: PURA HGNC NCBI

Linked Data

gnomAD v4: 5-140114001-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114001G>T , CM000667.2:g.140114001G>T GRCh38
NC_000005.9:g.139493586G>T , CM000667.1:g.139493586G>T GRCh37
NC_000005.8:g.139473770G>T NCBI36
NG_041813.1:g.4879G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000505703.2:c.-141-40G>T ENSP00000498560.1:n.-141-40G>T
ENST00000651386.1:c.-141-40G>T ENSP00000499133.1:n.-141-40G>T
ENST00000502351.1:n.283-40G>T
ENST00000505703.1:n.325-40G>T
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