Canonical Allele Identifier: CA3890297

Gene: SLC17A5

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73600429G>T , CM000668.2:g.73600429G>T	GRCh38
NC_000006.11:g.74310152G>T , CM000668.1:g.74310152G>T	GRCh37
NC_000006.10:g.74366873G>T	NCBI36
NG_008272.1:g.58586C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_012434.5:c.1272C>A MANE Select	NP_036566.1:p.Ile424=
ENST00000355773.6:c.1272C>A MANE Select	ENSP00000348019.5:p.Ile424=
NM_001382629.1:c.1041C>A	NP_001369558.1:p.Ile347=
NM_001382630.1:c.1260-5215C>A	NP_001369559.1:n.1260-5215C>A
NM_001382631.1:c.1293C>A	NP_001369560.1:p.Ile431=
NM_001382632.1:c.1185C>A	NP_001369561.1:p.Ile395=
NM_001382633.1:c.1272C>A	NP_001369562.1:p.Ile424=
NM_001382634.1:c.1113C>A	NP_001369563.1:p.Ile371=
NM_001382635.1:c.1269C>A	NP_001369564.1:p.Ile423=
NM_001382636.1:c.954C>A	NP_001369565.1:p.Ile318=
NM_012434.4:c.1272C>A	NP_036566.1:p.Ile424=
ENST00000355773.5:c.1272C>A	ENSP00000348019.5:p.Ile424=
XM_005248710.2:c.1221C>A	XP_005248767.1:p.Ile407=
XM_005248711.1:c.1074C>A	XP_005248768.1:p.Ile358=
XM_011535750.1:c.1124C>A	XP_011534052.1:p.Ser375Tyr