Canonical Allele Identifier: CA361490855
Gene: PURA HGNC NCBI

Linked Data

gnomAD v4: 5-140114656-C-T
COSMIC: COSM116223
MyVariant Identifiers: chr5:g.139494241C>T (hg19) chr5:g.140114656C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114656C>T , CM000667.2:g.140114656C>T GRCh38
NC_000005.9:g.139494241C>T , CM000667.1:g.139494241C>T GRCh37
NC_000005.8:g.139474425C>T NCBI36
NG_041813.1:g.5534C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000331327.5:c.475C>T MANE Select ENSP00000332706.3:p.Leu159Phe
ENST00000651386.1:c.475C>T ENSP00000499133.1:p.Leu159Phe
ENST00000331327.4:c.475C>T ENSP00000332706.3:p.Leu159Phe
NM_005859.4:c.475C>T NP_005850.1:p.Leu159Phe
NM_005859.5:c.475C>T MANE Select NP_005850.1:p.Leu159Phe
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