Canonical Allele Identifier: CA364719924

Gene: SLC17A5

Linked Data

• gnomAD v4: 6-73600351-A-T
• MyVariant Identifiers: chr6:g.74310074A>T (hg19) ; chr6:g.73600351A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73600351A>T , CM000668.2:g.73600351A>T	GRCh38
NC_000006.11:g.74310074A>T , CM000668.1:g.74310074A>T	GRCh37
NC_000006.10:g.74366795A>T	NCBI36
NG_008272.1:g.58664T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.1350T>A MANE Select	ENSP00000348019.5:p.Asp450Glu
ENST00000355773.5:c.1350T>A	ENSP00000348019.5:p.Asp450Glu
NM_012434.4:c.1350T>A	NP_036566.1:p.Asp450Glu
XM_005248710.2:c.1299T>A	XP_005248767.1:p.Asp433Glu
XM_005248711.1:c.1152T>A	XP_005248768.1:p.Asp384Glu
XM_011535750.1:c.*8T>A	XP_011534052.1:n.*8T>A
NM_012434.5:c.1350T>A MANE Select	NP_036566.1:p.Asp450Glu
NM_001382629.1:c.1119T>A	NP_001369558.1:p.Asp373Glu
NM_001382630.1:c.1260-5137T>A	NP_001369559.1:n.1260-5137T>A
NM_001382631.1:c.1371T>A	NP_001369560.1:p.Asp457Glu
NM_001382632.1:c.1263T>A	NP_001369561.1:p.Asp421Glu
NM_001382633.1:c.1350T>A	NP_001369562.1:p.Asp450Glu
NM_001382634.1:c.1191T>A	NP_001369563.1:p.Asp397Glu
NM_001382635.1:c.1347T>A	NP_001369564.1:p.Asp449Glu
NM_001382636.1:c.1032T>A	NP_001369565.1:p.Asp344Glu