Canonical Allele Identifier: CA128789412
Gene: PURA HGNC NCBI

Linked Data

dbSNP Id: rs1051955753
gnomAD v4: 5-140114742-C-T
MyVariant Identifiers: chr5:g.139494327C>T (hg19) chr5:g.140114742C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114742C>T , CM000667.2:g.140114742C>T GRCh38
NC_000005.9:g.139494327C>T , CM000667.1:g.139494327C>T GRCh37
NC_000005.8:g.139474511C>T NCBI36
NG_041813.1:g.5620C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000331327.5:c.561C>T MANE Select ENSP00000332706.3:p.Thr187=
ENST00000651386.1:c.561C>T ENSP00000499133.1:p.Thr187=
ENST00000331327.4:c.561C>T ENSP00000332706.3:p.Thr187=
NM_005859.4:c.561C>T NP_005850.1:p.Thr187=
NM_005859.5:c.561C>T MANE Select NP_005850.1:p.Thr187=
Search 100 bp 5'
Search 100 bp 3'