Canonical Allele Identifier: CA364713260

Gene: SLC17A5

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73621830C>A , CM000668.2:g.73621830C>A	GRCh38
NC_000006.11:g.74331553C>A , CM000668.1:g.74331553C>A	GRCh37
NC_000006.10:g.74388274C>A	NCBI36
NG_008272.1:g.37185G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_012434.5:c.952G>T MANE Select	NP_036566.1:p.Glu318Ter
ENST00000355773.6:c.952G>T MANE Select	ENSP00000348019.5:p.Glu318Ter
NM_001382629.1:c.721G>T	NP_001369558.1:p.Glu241Ter
NM_001382630.1:c.952G>T	NP_001369559.1:p.Glu318Ter
NM_001382631.1:c.973G>T	NP_001369560.1:p.Glu325Ter
NM_001382632.1:c.865G>T	NP_001369561.1:p.Glu289Ter
NM_001382633.1:c.952G>T	NP_001369562.1:p.Glu318Ter
NM_001382634.1:c.820-6383G>T	NP_001369563.1:n.820-6383G>T
NM_001382635.1:c.949G>T	NP_001369564.1:p.Glu317Ter
NM_001382636.1:c.634G>T	NP_001369565.1:p.Glu212Ter
NM_012434.4:c.952G>T	NP_036566.1:p.Glu318Ter
ENST00000355773.5:c.952G>T	ENSP00000348019.5:p.Glu318Ter
XM_005248710.2:c.901G>T	XP_005248767.1:p.Glu301Ter
XM_005248711.1:c.754G>T	XP_005248768.1:p.Glu252Ter
XM_011535750.1:c.952G>T	XP_011534052.1:p.Glu318Ter