Canonical Allele Identifier: CA361491221
Gene: PURA HGNC NCBI

Linked Data

dbSNP Id: rs1185790308
gnomAD v2: 5-139494409-C-G
gnomAD v4: 5-140114824-C-G
MyVariant Identifiers: chr5:g.139494409C>G (hg19) chr5:g.140114824C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114824C>G , CM000667.2:g.140114824C>G GRCh38
NC_000005.9:g.139494409C>G , CM000667.1:g.139494409C>G GRCh37
NC_000005.8:g.139474593C>G NCBI36
NG_041813.1:g.5702C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000331327.5:c.643C>G MANE Select ENSP00000332706.3:p.Pro215Ala
ENST00000651386.1:c.643C>G ENSP00000499133.1:p.Pro215Ala
ENST00000331327.4:c.643C>G ENSP00000332706.3:p.Pro215Ala
NM_005859.4:c.643C>G NP_005850.1:p.Pro215Ala
NM_005859.5:c.643C>G MANE Select NP_005850.1:p.Pro215Ala
Search 100 bp 5'
Search 100 bp 3'