Canonical Allele Identifier: CA450912550

Gene: SLC17A5

Linked Data

• MyVariant Identifiers: chr6:g.74310083C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73600360C>T , CM000668.2:g.73600360C>T	GRCh38
NC_000006.11:g.74310083C>T , CM000668.1:g.74310083C>T	GRCh37
NC_000006.10:g.74366804C>T	NCBI36
NG_008272.1:g.58655G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355773.6:c.1341G>A MANE Select	ENSP00000348019.5:p.Leu447=
ENST00000355773.5:c.1341G>A	ENSP00000348019.5:p.Leu447=
NM_012434.4:c.1341G>A	NP_036566.1:p.Leu447=
XM_005248710.2:c.1290G>A	XP_005248767.1:p.Leu430=
XM_005248711.1:c.1143G>A	XP_005248768.1:p.Leu381=
XM_011535750.1:c.1193G>A	XP_011534052.1:p.Ter398=
NM_012434.5:c.1341G>A MANE Select	NP_036566.1:p.Leu447=
NM_001382629.1:c.1110G>A	NP_001369558.1:p.Leu370=
NM_001382630.1:c.1260-5146G>A	NP_001369559.1:n.1260-5146G>A
NM_001382631.1:c.1362G>A	NP_001369560.1:p.Leu454=
NM_001382632.1:c.1254G>A	NP_001369561.1:p.Leu418=
NM_001382633.1:c.1341G>A	NP_001369562.1:p.Leu447=
NM_001382634.1:c.1182G>A	NP_001369563.1:p.Leu394=
NM_001382635.1:c.1338G>A	NP_001369564.1:p.Leu446=
NM_001382636.1:c.1023G>A	NP_001369565.1:p.Leu341=