Canonical Allele Identifier: CA446831216
Gene: PURA HGNC NCBI

Linked Data

dbSNP Id: rs1490350771
gnomAD v4: 5-140114574-C-T
MyVariant Identifiers: chr5:g.139494159C>T (hg19) chr5:g.140114574C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114574C>T , CM000667.2:g.140114574C>T GRCh38
NC_000005.9:g.139494159C>T , CM000667.1:g.139494159C>T GRCh37
NC_000005.8:g.139474343C>T NCBI36
NG_041813.1:g.5452C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000331327.5:c.393C>T MANE Select ENSP00000332706.3:p.Asp131=
ENST00000651386.1:c.393C>T ENSP00000499133.1:p.Asp131=
ENST00000331327.4:c.393C>T ENSP00000332706.3:p.Asp131=
NM_005859.4:c.393C>T NP_005850.1:p.Asp131=
NM_005859.5:c.393C>T MANE Select NP_005850.1:p.Asp131=
Search 100 bp 5'
Search 100 bp 3'