Canonical Allele Identifier: CA1638234804

Gene: SLC17A5

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73621910A= , CM000668.2:g.73621910A=	GRCh38
NC_000006.11:g.74331633A= , CM000668.1:g.74331633A=	GRCh37
NC_000006.10:g.74388354A=	NCBI36
NG_008272.1:g.37105T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000355773.6:c.872T= MANE Select	ENSP00000348019.5:p.Leu291=
ENST00000355773.5:c.872T=	ENSP00000348019.5:p.Leu291=
NM_012434.4:c.872T=	NP_036566.1:p.Leu291=
XM_005248710.2:c.821T=	XP_005248767.1:p.Leu274=
XM_005248711.1:c.674T=	XP_005248768.1:p.Leu225=
XM_011535750.1:c.872T=	XP_011534052.1:p.Leu291=
NM_012434.5:c.872T= MANE Select	NP_036566.1:p.Leu291=
NM_001382629.1:c.641T=	NP_001369558.1:p.Leu214=
NM_001382630.1:c.872T=	NP_001369559.1:p.Leu291=
NM_001382631.1:c.893T=	NP_001369560.1:p.Leu298=
NM_001382632.1:c.785T=	NP_001369561.1:p.Leu262=
NM_001382633.1:c.872T=	NP_001369562.1:p.Leu291=
NM_001382634.1:c.820-6463T=	NP_001369563.1:n.820-6463T=
NM_001382635.1:c.869T=	NP_001369564.1:p.Leu290=
NM_001382636.1:c.554T=	NP_001369565.1:p.Leu185=