Canonical Allele Identifier: CA364719943

Gene: SLC17A5

Linked Data

• MyVariant Identifiers: chr6:g.74310084A>T (hg19) ; chr6:g.73600361A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73600361A>T , CM000668.2:g.73600361A>T	GRCh38
NC_000006.11:g.74310084A>T , CM000668.1:g.74310084A>T	GRCh37
NC_000006.10:g.74366805A>T	NCBI36
NG_008272.1:g.58654T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.1340T>A MANE Select	ENSP00000348019.5:p.Leu447Gln
ENST00000355773.5:c.1340T>A	ENSP00000348019.5:p.Leu447Gln
NM_012434.4:c.1340T>A	NP_036566.1:p.Leu447Gln
XM_005248710.2:c.1289T>A	XP_005248767.1:p.Leu430Gln
XM_005248711.1:c.1142T>A	XP_005248768.1:p.Leu381Gln
XM_011535750.1:c.1192T>A	XP_011534052.1:p.Ter398Arg
NM_012434.5:c.1340T>A MANE Select	NP_036566.1:p.Leu447Gln
NM_001382629.1:c.1109T>A	NP_001369558.1:p.Leu370Gln
NM_001382630.1:c.1260-5147T>A	NP_001369559.1:n.1260-5147T>A
NM_001382631.1:c.1361T>A	NP_001369560.1:p.Leu454Gln
NM_001382632.1:c.1253T>A	NP_001369561.1:p.Leu418Gln
NM_001382633.1:c.1340T>A	NP_001369562.1:p.Leu447Gln
NM_001382634.1:c.1181T>A	NP_001369563.1:p.Leu394Gln
NM_001382635.1:c.1337T>A	NP_001369564.1:p.Leu446Gln
NM_001382636.1:c.1022T>A	NP_001369565.1:p.Leu341Gln