Canonical Allele Identifier: CA3437448
Gene: PURA HGNC NCBI

Linked Data

dbSNP Id: rs750051983
ExAC: 5:139494068 C / T
gnomAD v4: 5-140114483-C-T
MyVariant Identifiers: chr5:g.139494068C>T (hg19) chr5:g.140114483C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114483C>T , CM000667.2:g.140114483C>T GRCh38
NC_000005.9:g.139494068C>T , CM000667.1:g.139494068C>T GRCh37
NC_000005.8:g.139474252C>T NCBI36
NG_041813.1:g.5361C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000331327.5:c.302C>T MANE Select ENSP00000332706.3:p.Thr101Ile
ENST00000505703.2:c.302C>T ENSP00000498560.1:p.Thr101Ile
ENST00000651386.1:c.302C>T ENSP00000499133.1:p.Thr101Ile
ENST00000331327.4:c.302C>T ENSP00000332706.3:p.Thr101Ile
NM_005859.4:c.302C>T NP_005850.1:p.Thr101Ile
NM_005859.5:c.302C>T MANE Select NP_005850.1:p.Thr101Ile
Search 100 bp 5'
Search 100 bp 3'