Canonical Allele Identifier: CA446830826
Gene: PURA HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.139493970C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114385C>T , CM000667.2:g.140114385C>T GRCh38
NC_000005.9:g.139493970C>T , CM000667.1:g.139493970C>T GRCh37
NC_000005.8:g.139474154C>T NCBI36
NG_041813.1:g.5263C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000331327.5:c.204C>T MANE Select ENSP00000332706.3:p.Ile68=
ENST00000505703.2:c.204C>T ENSP00000498560.1:p.Ile68=
ENST00000651386.1:c.204C>T ENSP00000499133.1:p.Ile68=
ENST00000331327.4:c.204C>T ENSP00000332706.3:p.Ile68=
NM_005859.4:c.204C>T NP_005850.1:p.Ile68=
NM_005859.5:c.204C>T MANE Select NP_005850.1:p.Ile68=