Canonical Allele Identifier: CA3437467
Gene: PURA HGNC NCBI

Linked Data

ClinVar Variation Id: 1103353
ClinVar RCV Id: RCV001427018 RCV002329473
dbSNP Id: rs374074637
ExAC: 5:139494231 C / T
gnomAD v2: 5-139494231-C-T
gnomAD v4: 5-140114646-C-T
MyVariant Identifiers: chr5:g.139494231C>T (hg19) chr5:g.140114646C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114646C>T , CM000667.2:g.140114646C>T GRCh38
NC_000005.9:g.139494231C>T , CM000667.1:g.139494231C>T GRCh37
NC_000005.8:g.139474415C>T NCBI36
NG_041813.1:g.5524C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000331327.5:c.465C>T MANE Select ENSP00000332706.3:p.Tyr155=
ENST00000651386.1:c.465C>T ENSP00000499133.1:p.Tyr155=
ENST00000331327.4:c.465C>T ENSP00000332706.3:p.Tyr155=
NM_005859.4:c.465C>T NP_005850.1:p.Tyr155=
NM_005859.5:c.465C>T MANE Select NP_005850.1:p.Tyr155=
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