Canonical Allele Identifier: CA3437487
Gene: PURA HGNC NCBI

Linked Data

dbSNP Id: rs372391881
ExAC: 5:139494384 C / A
gnomAD v2: 5-139494384-C-A
gnomAD v4: 5-140114799-C-A
MyVariant Identifiers: chr5:g.139494384C>A (hg19) chr5:g.140114799C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114799C>A , CM000667.2:g.140114799C>A GRCh38
NC_000005.9:g.139494384C>A , CM000667.1:g.139494384C>A GRCh37
NC_000005.8:g.139474568C>A NCBI36
NG_041813.1:g.5677C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000331327.5:c.618C>A MANE Select ENSP00000332706.3:p.Ile206=
ENST00000651386.1:c.618C>A ENSP00000499133.1:p.Ile206=
ENST00000331327.4:c.618C>A ENSP00000332706.3:p.Ile206=
NM_005859.4:c.618C>A NP_005850.1:p.Ile206=
NM_005859.5:c.618C>A MANE Select NP_005850.1:p.Ile206=
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