Canonical Allele Identifier: CA128789362
Gene: PURA HGNC NCBI

Linked Data

dbSNP Id: rs909106636
gnomAD v2: 5-139493566-T-C
gnomAD v3: 5-140113981-T-C
gnomAD v4: 5-140113981-T-C
MyVariant Identifiers: chr5:g.139493566T>C (hg19) chr5:g.140113981T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140113981T>C , CM000667.2:g.140113981T>C GRCh38
NC_000005.9:g.139493566T>C , CM000667.1:g.139493566T>C GRCh37
NC_000005.8:g.139473750T>C NCBI36
NG_041813.1:g.4859T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000505703.2:c.-141-60T>C ENSP00000498560.1:n.-141-60T>C
ENST00000651386.1:c.-141-60T>C ENSP00000499133.1:n.-141-60T>C
ENST00000502351.1:n.283-60T>C
ENST00000505703.1:n.325-60T>C
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