Canonical Allele Identifier: CA1586594058

Gene: PURA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140114481T= , CM000667.2:g.140114481T=	GRCh38
NC_000005.9:g.139494066T= , CM000667.1:g.139494066T=	GRCh37
NC_000005.8:g.139474250T=	NCBI36
NG_041813.1:g.5359T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000331327.5:c.300T= MANE Select	ENSP00000332706.3:p.Leu100=
ENST00000505703.2:c.300T=	ENSP00000498560.1:p.Leu100=
ENST00000651386.1:c.300T=	ENSP00000499133.1:p.Leu100=
ENST00000331327.4:c.300T=	ENSP00000332706.3:p.Leu100=
NM_005859.4:c.300T=	NP_005850.1:p.Leu100=
NM_005859.5:c.300T= MANE Select	NP_005850.1:p.Leu100=