Canonical Allele Identifier: CA364716440

Gene: SLC17A5

Linked Data

• MyVariant Identifiers: chr6:g.74346356A>T (hg19) ; chr6:g.73636633A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73636633A>T , CM000668.2:g.73636633A>T	GRCh38
NC_000006.11:g.74346356A>T , CM000668.1:g.74346356A>T	GRCh37
NC_000006.10:g.74403077A>T	NCBI36
NG_008272.1:g.22382T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355773.6:c.688T>A MANE Select	ENSP00000348019.5:p.Phe230Ile
ENST00000355773.5:c.688T>A	ENSP00000348019.5:p.Phe230Ile
ENST00000481996.1:n.454T>A
NM_012434.4:c.688T>A	NP_036566.1:p.Phe230Ile
XM_005248710.2:c.637T>A	XP_005248767.1:p.Phe213Ile
XM_005248711.1:c.490T>A	XP_005248768.1:p.Phe164Ile
XM_011535750.1:c.688T>A	XP_011534052.1:p.Phe230Ile
XM_011535751.1:c.688T>A	XP_011534053.1:p.Phe230Ile
NM_012434.5:c.688T>A MANE Select	NP_036566.1:p.Phe230Ile
NM_001382629.1:c.457T>A	NP_001369558.1:p.Phe153Ile
NM_001382630.1:c.688T>A	NP_001369559.1:p.Phe230Ile
NM_001382631.1:c.709T>A	NP_001369560.1:p.Phe237Ile
NM_001382632.1:c.614-1133T>A	NP_001369561.1:n.614-1133T>A
NM_001382633.1:c.688T>A	NP_001369562.1:p.Phe230Ile
NM_001382634.1:c.688T>A	NP_001369563.1:p.Phe230Ile
NM_001382635.1:c.685T>A	NP_001369564.1:p.Phe229Ile
NM_001382636.1:c.383-1133T>A	NP_001369565.1:n.383-1133T>A