Canonical Allele Identifier: CA361491081

Gene: PURA

Linked Data

• MyVariant Identifiers: chr5:g.139494349C>G (hg19) ; chr5:g.140114764C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140114764C>G , CM000667.2:g.140114764C>G	GRCh38
NC_000005.9:g.139494349C>G , CM000667.1:g.139494349C>G	GRCh37
NC_000005.8:g.139474533C>G	NCBI36
NG_041813.1:g.5642C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331327.5:c.583C>G MANE Select	ENSP00000332706.3:p.Leu195Val
ENST00000651386.1:c.583C>G	ENSP00000499133.1:p.Leu195Val
ENST00000331327.4:c.583C>G	ENSP00000332706.3:p.Leu195Val
NM_005859.4:c.583C>G	NP_005850.1:p.Leu195Val
NM_005859.5:c.583C>G MANE Select	NP_005850.1:p.Leu195Val