Canonical Allele Identifier: CA361491086
Gene: PURA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114767A>C , CM000667.2:g.140114767A>C GRCh38
NC_000005.9:g.139494352A>C , CM000667.1:g.139494352A>C GRCh37
NC_000005.8:g.139474536A>C NCBI36
NG_041813.1:g.5645A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000331327.5:c.586A>C MANE Select ENSP00000332706.3:p.Ile196Leu
ENST00000651386.1:c.586A>C ENSP00000499133.1:p.Ile196Leu
ENST00000331327.4:c.586A>C ENSP00000332706.3:p.Ile196Leu
NM_005859.4:c.586A>C NP_005850.1:p.Ile196Leu
NM_005859.5:c.586A>C MANE Select NP_005850.1:p.Ile196Leu