Canonical Allele Identifier: CA450914566

Gene: SLC17A5

Linked Data

• ClinVar Variation Id: 1555922
• ClinVar RCV Id: RCV002202132
• dbSNP Id: rs2150086614
• MyVariant Identifiers: chr6:g.74320167A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73610444A>G , CM000668.2:g.73610444A>G	GRCh38
NC_000006.11:g.74320167A>G , CM000668.1:g.74320167A>G	GRCh37
NC_000006.10:g.74376888A>G	NCBI36
NG_008272.1:g.48571T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355773.6:c.1215T>C MANE Select	ENSP00000348019.5:p.Phe405=
ENST00000355773.5:c.1215T>C	ENSP00000348019.5:p.Phe405=
NM_012434.4:c.1215T>C	NP_036566.1:p.Phe405=
XM_005248710.2:c.1164T>C	XP_005248767.1:p.Phe388=
XM_005248711.1:c.1017T>C	XP_005248768.1:p.Phe339=
XM_011535750.1:c.1111+4871T>C	XP_011534052.1:n.1111+4871T>C
NM_012434.5:c.1215T>C MANE Select	NP_036566.1:p.Phe405=
NM_001382629.1:c.984T>C	NP_001369558.1:p.Phe328=
NM_001382630.1:c.1215T>C	NP_001369559.1:p.Phe405=
NM_001382631.1:c.1236T>C	NP_001369560.1:p.Phe412=
NM_001382632.1:c.1128T>C	NP_001369561.1:p.Phe376=
NM_001382633.1:c.1215T>C	NP_001369562.1:p.Phe405=
NM_001382634.1:c.1056T>C	NP_001369563.1:p.Phe352=
NM_001382635.1:c.1212T>C	NP_001369564.1:p.Phe404=
NM_001382636.1:c.897T>C	NP_001369565.1:p.Phe299=