Canonical Allele Identifier: CA1638223815

Gene: SLC17A5

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73600362G= , CM000668.2:g.73600362G=	GRCh38
NC_000006.11:g.74310085G= , CM000668.1:g.74310085G=	GRCh37
NC_000006.10:g.74366806G=	NCBI36
NG_008272.1:g.58653C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.1339C= MANE Select	ENSP00000348019.5:p.Leu447=
ENST00000355773.5:c.1339C=	ENSP00000348019.5:p.Leu447=
NM_012434.4:c.1339C=	NP_036566.1:p.Leu447=
XM_005248710.2:c.1288C=	XP_005248767.1:p.Leu430=
XM_005248711.1:c.1141C=	XP_005248768.1:p.Leu381=
XM_011535750.1:c.1191C=	XP_011534052.1:p.Val397=
NM_012434.5:c.1339C= MANE Select	NP_036566.1:p.Leu447=
NM_001382629.1:c.1108C=	NP_001369558.1:p.Leu370=
NM_001382630.1:c.1260-5148C=	NP_001369559.1:n.1260-5148C=
NM_001382631.1:c.1360C=	NP_001369560.1:p.Leu454=
NM_001382632.1:c.1252C=	NP_001369561.1:p.Leu418=
NM_001382633.1:c.1339C=	NP_001369562.1:p.Leu447=
NM_001382634.1:c.1180C=	NP_001369563.1:p.Leu394=
NM_001382635.1:c.1336C=	NP_001369564.1:p.Leu446=
NM_001382636.1:c.1021C=	NP_001369565.1:p.Leu341=