Canonical Allele Identifier: CA446758278
Gene: PURA HGNC NCBI

Linked Data

ClinVar Variation Id: 1090196
ClinVar RCV Id: RCV001409266
dbSNP Id: rs1345518698
gnomAD v4: 5-140114232-G-T
MyVariant Identifiers: chr5:g.139493817G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114232G>T , CM000667.2:g.140114232G>T GRCh38
NC_000005.9:g.139493817G>T , CM000667.1:g.139493817G>T GRCh37
NC_000005.8:g.139474001G>T NCBI36
NG_041813.1:g.5110G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000331327.5:c.51G>T MANE Select ENSP00000332706.3:p.Ser17=
ENST00000505703.2:c.51G>T ENSP00000498560.1:p.Ser17=
ENST00000651386.1:c.51G>T ENSP00000499133.1:p.Ser17=
ENST00000331327.4:c.51G>T ENSP00000332706.3:p.Ser17=
ENST00000502351.1:n.474G>T
ENST00000505703.1:n.516G>T
NM_005859.4:c.51G>T NP_005850.1:p.Ser17=
NM_005859.5:c.51G>T MANE Select NP_005850.1:p.Ser17=
Search 100 bp 5'
Search 100 bp 3'