Canonical Allele Identifier: CA446830844
Gene: PURA HGNC NCBI

Linked Data

ClinVar Variation Id: 1551515
ClinVar RCV Id: RCV002196783
dbSNP Id: rs2126749091
gnomAD v4: 5-140114625-G-A
MyVariant Identifiers: chr5:g.139494210G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114625G>A , CM000667.2:g.140114625G>A GRCh38
NC_000005.9:g.139494210G>A , CM000667.1:g.139494210G>A GRCh37
NC_000005.8:g.139474394G>A NCBI36
NG_041813.1:g.5503G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000331327.5:c.444G>A MANE Select ENSP00000332706.3:p.Leu148=
ENST00000651386.1:c.444G>A ENSP00000499133.1:p.Leu148=
ENST00000331327.4:c.444G>A ENSP00000332706.3:p.Leu148=
NM_005859.4:c.444G>A NP_005850.1:p.Leu148=
NM_005859.5:c.444G>A MANE Select NP_005850.1:p.Leu148=
Search 100 bp 5'
Search 100 bp 3'