Canonical Allele Identifier: CA446831187
Gene: PURA HGNC NCBI

Linked Data

dbSNP Id: rs1213597146
gnomAD v2: 5-139494141-C-T
gnomAD v4: 5-140114556-C-T
MyVariant Identifiers: chr5:g.139494141C>T (hg19) chr5:g.140114556C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114556C>T , CM000667.2:g.140114556C>T GRCh38
NC_000005.9:g.139494141C>T , CM000667.1:g.139494141C>T GRCh37
NC_000005.8:g.139474325C>T NCBI36
NG_041813.1:g.5434C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000331327.5:c.375C>T MANE Select ENSP00000332706.3:p.Gly125=
ENST00000651386.1:c.375C>T ENSP00000499133.1:p.Gly125=
ENST00000331327.4:c.375C>T ENSP00000332706.3:p.Gly125=
NM_005859.4:c.375C>T NP_005850.1:p.Gly125=
NM_005859.5:c.375C>T MANE Select NP_005850.1:p.Gly125=
Search 100 bp 5'
Search 100 bp 3'