Canonical Allele Identifier: CA450912139

Gene: SLC17A5

Linked Data

• ClinVar Variation Id: 2859712
• ClinVar RCV Id: RCV003614854
• MyVariant Identifiers: chr6:g.74351498A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73641775A>T , CM000668.2:g.73641775A>T	GRCh38
NC_000006.11:g.74351498A>T , CM000668.1:g.74351498A>T	GRCh37
NC_000006.10:g.74408219A>T	NCBI36
NG_008272.1:g.17240T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.441T>A MANE Select	ENSP00000348019.5:p.Ala147=
ENST00000355773.5:c.441T>A	ENSP00000348019.5:p.Ala147=
ENST00000481996.1:n.207T>A
NM_012434.4:c.441T>A	NP_036566.1:p.Ala147=
XM_005248710.2:c.390T>A	XP_005248767.1:p.Ala130=
XM_005248711.1:c.243T>A	XP_005248768.1:p.Ala81=
XM_011535750.1:c.441T>A	XP_011534052.1:p.Ala147=
XM_011535751.1:c.441T>A	XP_011534053.1:p.Ala147=
NM_012434.5:c.441T>A MANE Select	NP_036566.1:p.Ala147=
NM_001382629.1:c.210T>A	NP_001369558.1:p.Ala70=
NM_001382630.1:c.441T>A	NP_001369559.1:p.Ala147=
NM_001382631.1:c.462T>A	NP_001369560.1:p.Ala154=
NM_001382632.1:c.441T>A	NP_001369561.1:p.Ala147=
NM_001382633.1:c.441T>A	NP_001369562.1:p.Ala147=
NM_001382634.1:c.441T>A	NP_001369563.1:p.Ala147=
NM_001382635.1:c.441T>A	NP_001369564.1:p.Ala147=
NM_001382636.1:c.210T>A	NP_001369565.1:p.Ala70=