Canonical Allele Identifier: CA361490769
Gene: PURA HGNC NCBI

Linked Data

dbSNP Id: rs2126749088
gnomAD v3: 5-140114620-T-C
gnomAD v4: 5-140114620-T-C
MyVariant Identifiers: chr5:g.139494205T>C (hg19) chr5:g.140114620T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114620T>C , CM000667.2:g.140114620T>C GRCh38
NC_000005.9:g.139494205T>C , CM000667.1:g.139494205T>C GRCh37
NC_000005.8:g.139474389T>C NCBI36
NG_041813.1:g.5498T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000331327.5:c.439T>C MANE Select ENSP00000332706.3:p.Phe147Leu
ENST00000651386.1:c.439T>C ENSP00000499133.1:p.Phe147Leu
ENST00000331327.4:c.439T>C ENSP00000332706.3:p.Phe147Leu
NM_005859.4:c.439T>C NP_005850.1:p.Phe147Leu
NM_005859.5:c.439T>C MANE Select NP_005850.1:p.Phe147Leu
Search 100 bp 5'
Search 100 bp 3'