Canonical Allele Identifier: CA446831172
Gene: PURA HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.139494436T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114851T>C , CM000667.2:g.140114851T>C GRCh38
NC_000005.9:g.139494436T>C , CM000667.1:g.139494436T>C GRCh37
NC_000005.8:g.139474620T>C NCBI36
NG_041813.1:g.5729T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000331327.5:c.670T>C MANE Select ENSP00000332706.3:p.Leu224=
ENST00000651386.1:c.670T>C ENSP00000499133.1:p.Leu224=
ENST00000331327.4:c.670T>C ENSP00000332706.3:p.Leu224=
NM_005859.4:c.670T>C NP_005850.1:p.Leu224=
NM_005859.5:c.670T>C MANE Select NP_005850.1:p.Leu224=