Canonical Allele Identifier: CA140972055

Gene: SLC17A5

Linked Data

• dbSNP Id: rs1034538510
• gnomAD v4: 6-73600352-T-A
• MyVariant Identifiers: chr6:g.74310075T>A (hg19) ; chr6:g.73600352T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73600352T>A , CM000668.2:g.73600352T>A	GRCh38
NC_000006.11:g.74310075T>A , CM000668.1:g.74310075T>A	GRCh37
NC_000006.10:g.74366796T>A	NCBI36
NG_008272.1:g.58663A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.1349A>T MANE Select	ENSP00000348019.5:p.Asp450Val
ENST00000355773.5:c.1349A>T	ENSP00000348019.5:p.Asp450Val
NM_012434.4:c.1349A>T	NP_036566.1:p.Asp450Val
XM_005248710.2:c.1298A>T	XP_005248767.1:p.Asp433Val
XM_005248711.1:c.1151A>T	XP_005248768.1:p.Asp384Val
XM_011535750.1:c.*7A>T	XP_011534052.1:n.*7A>T
NM_012434.5:c.1349A>T MANE Select	NP_036566.1:p.Asp450Val
NM_001382629.1:c.1118A>T	NP_001369558.1:p.Asp373Val
NM_001382630.1:c.1260-5138A>T	NP_001369559.1:n.1260-5138A>T
NM_001382631.1:c.1370A>T	NP_001369560.1:p.Asp457Val
NM_001382632.1:c.1262A>T	NP_001369561.1:p.Asp421Val
NM_001382633.1:c.1349A>T	NP_001369562.1:p.Asp450Val
NM_001382634.1:c.1190A>T	NP_001369563.1:p.Asp397Val
NM_001382635.1:c.1346A>T	NP_001369564.1:p.Asp449Val
NM_001382636.1:c.1031A>T	NP_001369565.1:p.Asp344Val