Canonical Allele Identifier: CA450912420

Gene: SLC17A5

Linked Data

• ClinVar Variation Id: 2794764
• ClinVar RCV Id: RCV003614424
• dbSNP Id: rs1769447722
• MyVariant Identifiers: chr6:g.74354283G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73644560G>A , CM000668.2:g.73644560G>A	GRCh38
NC_000006.11:g.74354283G>A , CM000668.1:g.74354283G>A	GRCh37
NC_000006.10:g.74411004G>A	NCBI36
NG_008272.1:g.14455C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.138C>T MANE Select	ENSP00000348019.5:p.Ala46=
ENST00000355773.5:c.138C>T	ENSP00000348019.5:p.Ala46=
NM_012434.4:c.138C>T	NP_036566.1:p.Ala46=
XM_005248710.2:c.87C>T	XP_005248767.1:p.Ala29=
XM_005248711.1:c.-61C>T	XP_005248768.1:n.-61C>T
XM_011535750.1:c.138C>T	XP_011534052.1:p.Ala46=
XM_011535751.1:c.138C>T	XP_011534053.1:p.Ala46=
NM_012434.5:c.138C>T MANE Select	NP_036566.1:p.Ala46=
NM_001382629.1:c.61-2636C>T	NP_001369558.1:n.61-2636C>T
NM_001382630.1:c.138C>T	NP_001369559.1:p.Ala46=
NM_001382631.1:c.159C>T	NP_001369560.1:p.Ala53=
NM_001382632.1:c.138C>T	NP_001369561.1:p.Ala46=
NM_001382633.1:c.138C>T	NP_001369562.1:p.Ala46=
NM_001382634.1:c.138C>T	NP_001369563.1:p.Ala46=
NM_001382635.1:c.138C>T	NP_001369564.1:p.Ala46=
NM_001382636.1:c.61-2636C>T	NP_001369565.1:n.61-2636C>T