Canonical Allele Identifier: CA450912043

Gene: SLC17A5

Linked Data

• ClinVar Variation Id: 2815795
• ClinVar RCV Id: RCV003613682
• MyVariant Identifiers: chr6:g.74348199A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73638476A>G , CM000668.2:g.73638476A>G	GRCh38
NC_000006.11:g.74348199A>G , CM000668.1:g.74348199A>G	GRCh37
NC_000006.10:g.74404920A>G	NCBI36
NG_008272.1:g.20539T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.549T>C MANE Select	ENSP00000348019.5:p.His183=
ENST00000355773.5:c.549T>C	ENSP00000348019.5:p.His183=
ENST00000481996.1:n.315T>C
NM_012434.4:c.549T>C	NP_036566.1:p.His183=
XM_005248710.2:c.498T>C	XP_005248767.1:p.His166=
XM_005248711.1:c.351T>C	XP_005248768.1:p.His117=
XM_011535750.1:c.549T>C	XP_011534052.1:p.His183=
XM_011535751.1:c.549T>C	XP_011534053.1:p.His183=
NM_012434.5:c.549T>C MANE Select	NP_036566.1:p.His183=
NM_001382629.1:c.318T>C	NP_001369558.1:p.His106=
NM_001382630.1:c.549T>C	NP_001369559.1:p.His183=
NM_001382631.1:c.570T>C	NP_001369560.1:p.His190=
NM_001382632.1:c.549T>C	NP_001369561.1:p.His183=
NM_001382633.1:c.549T>C	NP_001369562.1:p.His183=
NM_001382634.1:c.549T>C	NP_001369563.1:p.His183=
NM_001382635.1:c.549T>C	NP_001369564.1:p.His183=
NM_001382636.1:c.318T>C	NP_001369565.1:p.His106=