Canonical Allele Identifier: CA3890327

Gene: SLC17A5

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73610483G>A , CM000668.2:g.73610483G>A	GRCh38
NC_000006.11:g.74320206G>A , CM000668.1:g.74320206G>A	GRCh37
NC_000006.10:g.74376927G>A	NCBI36
NG_008272.1:g.48532C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_012434.5:c.1176C>T MANE Select	NP_036566.1:p.Ala392=
ENST00000355773.6:c.1176C>T MANE Select	ENSP00000348019.5:p.Ala392=
NM_001382629.1:c.945C>T	NP_001369558.1:p.Ala315=
NM_001382630.1:c.1176C>T	NP_001369559.1:p.Ala392=
NM_001382631.1:c.1197C>T	NP_001369560.1:p.Ala399=
NM_001382632.1:c.1089C>T	NP_001369561.1:p.Ala363=
NM_001382633.1:c.1176C>T	NP_001369562.1:p.Ala392=
NM_001382634.1:c.1017C>T	NP_001369563.1:p.Ala339=
NM_001382635.1:c.1173C>T	NP_001369564.1:p.Ala391=
NM_001382636.1:c.858C>T	NP_001369565.1:p.Ala286=
NM_012434.4:c.1176C>T	NP_036566.1:p.Ala392=
ENST00000355773.5:c.1176C>T	ENSP00000348019.5:p.Ala392=
XM_005248710.2:c.1125C>T	XP_005248767.1:p.Ala375=
XM_005248711.1:c.978C>T	XP_005248768.1:p.Ala326=
XM_011535750.1:c.1111+4832C>T	XP_011534052.1:n.1111+4832C>T