Canonical Allele Identifier: CA364716435

Gene: SLC17A5

Linked Data

• MyVariant Identifiers: chr6:g.74346355A>C (hg19) ; chr6:g.73636632A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73636632A>C , CM000668.2:g.73636632A>C	GRCh38
NC_000006.11:g.74346355A>C , CM000668.1:g.74346355A>C	GRCh37
NC_000006.10:g.74403076A>C	NCBI36
NG_008272.1:g.22383T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355773.6:c.689T>G MANE Select	ENSP00000348019.5:p.Phe230Cys
ENST00000355773.5:c.689T>G	ENSP00000348019.5:p.Phe230Cys
ENST00000481996.1:n.455T>G
NM_012434.4:c.689T>G	NP_036566.1:p.Phe230Cys
XM_005248710.2:c.638T>G	XP_005248767.1:p.Phe213Cys
XM_005248711.1:c.491T>G	XP_005248768.1:p.Phe164Cys
XM_011535750.1:c.689T>G	XP_011534052.1:p.Phe230Cys
XM_011535751.1:c.689T>G	XP_011534053.1:p.Phe230Cys
NM_012434.5:c.689T>G MANE Select	NP_036566.1:p.Phe230Cys
NM_001382629.1:c.458T>G	NP_001369558.1:p.Phe153Cys
NM_001382630.1:c.689T>G	NP_001369559.1:p.Phe230Cys
NM_001382631.1:c.710T>G	NP_001369560.1:p.Phe237Cys
NM_001382632.1:c.614-1132T>G	NP_001369561.1:n.614-1132T>G
NM_001382633.1:c.689T>G	NP_001369562.1:p.Phe230Cys
NM_001382634.1:c.689T>G	NP_001369563.1:p.Phe230Cys
NM_001382635.1:c.686T>G	NP_001369564.1:p.Phe229Cys
NM_001382636.1:c.383-1132T>G	NP_001369565.1:n.383-1132T>G