Canonical Allele Identifier: CA140963049

Gene: SLC17A5

Linked Data

• dbSNP Id: rs745386414
• gnomAD v4: 6-73621806-C-T
• MyVariant Identifiers: chr6:g.74331529C>T (hg19) ; chr6:g.73621806C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73621806C>T , CM000668.2:g.73621806C>T	GRCh38
NC_000006.11:g.74331529C>T , CM000668.1:g.74331529C>T	GRCh37
NC_000006.10:g.74388250C>T	NCBI36
NG_008272.1:g.37209G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355773.6:c.976G>A MANE Select	ENSP00000348019.5:p.Glu326Lys
ENST00000355773.5:c.976G>A	ENSP00000348019.5:p.Glu326Lys
NM_012434.4:c.976G>A	NP_036566.1:p.Glu326Lys
XM_005248710.2:c.925G>A	XP_005248767.1:p.Glu309Lys
XM_005248711.1:c.778G>A	XP_005248768.1:p.Glu260Lys
XM_011535750.1:c.976G>A	XP_011534052.1:p.Glu326Lys
NM_012434.5:c.976G>A MANE Select	NP_036566.1:p.Glu326Lys
NM_001382629.1:c.745G>A	NP_001369558.1:p.Glu249Lys
NM_001382630.1:c.976G>A	NP_001369559.1:p.Glu326Lys
NM_001382631.1:c.997G>A	NP_001369560.1:p.Glu333Lys
NM_001382632.1:c.889G>A	NP_001369561.1:p.Glu297Lys
NM_001382633.1:c.976G>A	NP_001369562.1:p.Glu326Lys
NM_001382634.1:c.820-6359G>A	NP_001369563.1:n.820-6359G>A
NM_001382635.1:c.973G>A	NP_001369564.1:p.Glu325Lys
NM_001382636.1:c.658G>A	NP_001369565.1:p.Glu220Lys