Canonical Allele Identifier: CA3890389

Gene: SLC17A5

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73621825G>T , CM000668.2:g.73621825G>T	GRCh38
NC_000006.11:g.74331548G>T , CM000668.1:g.74331548G>T	GRCh37
NC_000006.10:g.74388269G>T	NCBI36
NG_008272.1:g.37190C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_012434.5:c.957C>A MANE Select	NP_036566.1:p.Ile319=
ENST00000355773.6:c.957C>A MANE Select	ENSP00000348019.5:p.Ile319=
NM_001382629.1:c.726C>A	NP_001369558.1:p.Ile242=
NM_001382630.1:c.957C>A	NP_001369559.1:p.Ile319=
NM_001382631.1:c.978C>A	NP_001369560.1:p.Ile326=
NM_001382632.1:c.870C>A	NP_001369561.1:p.Ile290=
NM_001382633.1:c.957C>A	NP_001369562.1:p.Ile319=
NM_001382634.1:c.820-6378C>A	NP_001369563.1:n.820-6378C>A
NM_001382635.1:c.954C>A	NP_001369564.1:p.Ile318=
NM_001382636.1:c.639C>A	NP_001369565.1:p.Ile213=
NM_012434.4:c.957C>A	NP_036566.1:p.Ile319=
ENST00000355773.5:c.957C>A	ENSP00000348019.5:p.Ile319=
XM_005248710.2:c.906C>A	XP_005248767.1:p.Ile302=
XM_005248711.1:c.759C>A	XP_005248768.1:p.Ile253=
XM_011535750.1:c.957C>A	XP_011534052.1:p.Ile319=