Canonical Allele Identifier: CA364721178

Gene: SLC17A5

Linked Data

• MyVariant Identifiers: chr6:g.74320256C>T (hg19) ; chr6:g.73610533C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73610533C>T , CM000668.2:g.73610533C>T	GRCh38
NC_000006.11:g.74320256C>T , CM000668.1:g.74320256C>T	GRCh37
NC_000006.10:g.74376977C>T	NCBI36
NG_008272.1:g.48482G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355773.6:c.1126G>A MANE Select	ENSP00000348019.5:p.Ala376Thr
ENST00000355773.5:c.1126G>A	ENSP00000348019.5:p.Ala376Thr
NM_012434.4:c.1126G>A	NP_036566.1:p.Ala376Thr
XM_005248710.2:c.1075G>A	XP_005248767.1:p.Ala359Thr
XM_005248711.1:c.928G>A	XP_005248768.1:p.Ala310Thr
XM_011535750.1:c.1111+4782G>A	XP_011534052.1:n.1111+4782G>A
NM_012434.5:c.1126G>A MANE Select	NP_036566.1:p.Ala376Thr
NM_001382629.1:c.895G>A	NP_001369558.1:p.Ala299Thr
NM_001382630.1:c.1126G>A	NP_001369559.1:p.Ala376Thr
NM_001382631.1:c.1147G>A	NP_001369560.1:p.Ala383Thr
NM_001382632.1:c.1039G>A	NP_001369561.1:p.Ala347Thr
NM_001382633.1:c.1126G>A	NP_001369562.1:p.Ala376Thr
NM_001382634.1:c.967G>A	NP_001369563.1:p.Ala323Thr
NM_001382635.1:c.1123G>A	NP_001369564.1:p.Ala375Thr
NM_001382636.1:c.808G>A	NP_001369565.1:p.Ala270Thr