Canonical Allele Identifier: CA364719925

Gene: SLC17A5

Linked Data

• ClinVar Variation Id: 1935059
• ClinVar RCV Id: RCV002622928
• MyVariant Identifiers: chr6:g.74310075T>C (hg19) ; chr6:g.73600352T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.1349A>G MANE Select	ENSP00000348019.5:p.Asp450Gly
ENST00000355773.5:c.1349A>G	ENSP00000348019.5:p.Asp450Gly
NM_012434.4:c.1349A>G	NP_036566.1:p.Asp450Gly
XM_005248710.2:c.1298A>G	XP_005248767.1:p.Asp433Gly
XM_005248711.1:c.1151A>G	XP_005248768.1:p.Asp384Gly
XM_011535750.1:c.*7A>G	XP_011534052.1:n.*7A>G
NM_012434.5:c.1349A>G MANE Select	NP_036566.1:p.Asp450Gly
NM_001382629.1:c.1118A>G	NP_001369558.1:p.Asp373Gly
NM_001382630.1:c.1260-5138A>G	NP_001369559.1:n.1260-5138A>G
NM_001382631.1:c.1370A>G	NP_001369560.1:p.Asp457Gly
NM_001382632.1:c.1262A>G	NP_001369561.1:p.Asp421Gly
NM_001382633.1:c.1349A>G	NP_001369562.1:p.Asp450Gly
NM_001382634.1:c.1190A>G	NP_001369563.1:p.Asp397Gly
NM_001382635.1:c.1346A>G	NP_001369564.1:p.Asp449Gly
NM_001382636.1:c.1031A>G	NP_001369565.1:p.Asp344Gly