Canonical Allele Identifier: CA364720023

Gene: SLC17A5

Linked Data

• MyVariant Identifiers: chr6:g.74310123G>T (hg19) ; chr6:g.73600400G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73600400G>T , CM000668.2:g.73600400G>T	GRCh38
NC_000006.11:g.74310123G>T , CM000668.1:g.74310123G>T	GRCh37
NC_000006.10:g.74366844G>T	NCBI36
NG_008272.1:g.58615C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.1301C>A MANE Select	ENSP00000348019.5:p.Thr434Asn
ENST00000355773.5:c.1301C>A	ENSP00000348019.5:p.Thr434Asn
NM_012434.4:c.1301C>A	NP_036566.1:p.Thr434Asn
XM_005248710.2:c.1250C>A	XP_005248767.1:p.Thr417Asn
XM_005248711.1:c.1103C>A	XP_005248768.1:p.Thr368Asn
XM_011535750.1:c.1153C>A	XP_011534052.1:p.Leu385Ile
NM_012434.5:c.1301C>A MANE Select	NP_036566.1:p.Thr434Asn
NM_001382629.1:c.1070C>A	NP_001369558.1:p.Thr357Asn
NM_001382630.1:c.1260-5186C>A	NP_001369559.1:n.1260-5186C>A
NM_001382631.1:c.1322C>A	NP_001369560.1:p.Thr441Asn
NM_001382632.1:c.1214C>A	NP_001369561.1:p.Thr405Asn
NM_001382633.1:c.1301C>A	NP_001369562.1:p.Thr434Asn
NM_001382634.1:c.1142C>A	NP_001369563.1:p.Thr381Asn
NM_001382635.1:c.1298C>A	NP_001369564.1:p.Thr433Asn
NM_001382636.1:c.983C>A	NP_001369565.1:p.Thr328Asn