Canonical Allele Identifier: CA361491073

Gene: PURA

Linked Data

• MyVariant Identifiers: chr5:g.139494345G>T (hg19) ; chr5:g.140114760G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140114760G>T , CM000667.2:g.140114760G>T	GRCh38
NC_000005.9:g.139494345G>T , CM000667.1:g.139494345G>T	GRCh37
NC_000005.8:g.139474529G>T	NCBI36
NG_041813.1:g.5638G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331327.5:c.579G>T MANE Select	ENSP00000332706.3:p.Gln193His
ENST00000651386.1:c.579G>T	ENSP00000499133.1:p.Gln193His
ENST00000331327.4:c.579G>T	ENSP00000332706.3:p.Gln193His
NM_005859.4:c.579G>T	NP_005850.1:p.Gln193His
NM_005859.5:c.579G>T MANE Select	NP_005850.1:p.Gln193His