Canonical Allele Identifier: CA1638234793

Gene: SLC17A5

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73621887A= , CM000668.2:g.73621887A=	GRCh38
NC_000006.11:g.74331610A= , CM000668.1:g.74331610A=	GRCh37
NC_000006.10:g.74388331A=	NCBI36
NG_008272.1:g.37128T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000355773.6:c.895T= MANE Select	ENSP00000348019.5:p.Phe299=
ENST00000355773.5:c.895T=	ENSP00000348019.5:p.Phe299=
NM_012434.4:c.895T=	NP_036566.1:p.Phe299=
XM_005248710.2:c.844T=	XP_005248767.1:p.Phe282=
XM_005248711.1:c.697T=	XP_005248768.1:p.Phe233=
XM_011535750.1:c.895T=	XP_011534052.1:p.Phe299=
NM_012434.5:c.895T= MANE Select	NP_036566.1:p.Phe299=
NM_001382629.1:c.664T=	NP_001369558.1:p.Phe222=
NM_001382630.1:c.895T=	NP_001369559.1:p.Phe299=
NM_001382631.1:c.916T=	NP_001369560.1:p.Phe306=
NM_001382632.1:c.808T=	NP_001369561.1:p.Phe270=
NM_001382633.1:c.895T=	NP_001369562.1:p.Phe299=
NM_001382634.1:c.820-6440T=	NP_001369563.1:n.820-6440T=
NM_001382635.1:c.892T=	NP_001369564.1:p.Phe298=
NM_001382636.1:c.577T=	NP_001369565.1:p.Phe193=