Canonical Allele Identifier: CA364713571

Gene: SLC17A5

Linked Data

• MyVariant Identifiers: chr6:g.74331615G>T (hg19) ; chr6:g.73621892G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73621892G>T , CM000668.2:g.73621892G>T	GRCh38
NC_000006.11:g.74331615G>T , CM000668.1:g.74331615G>T	GRCh37
NC_000006.10:g.74388336G>T	NCBI36
NG_008272.1:g.37123C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355773.6:c.890C>A MANE Select	ENSP00000348019.5:p.Ala297Glu
ENST00000355773.5:c.890C>A	ENSP00000348019.5:p.Ala297Glu
NM_012434.4:c.890C>A	NP_036566.1:p.Ala297Glu
XM_005248710.2:c.839C>A	XP_005248767.1:p.Ala280Glu
XM_005248711.1:c.692C>A	XP_005248768.1:p.Ala231Glu
XM_011535750.1:c.890C>A	XP_011534052.1:p.Ala297Glu
NM_012434.5:c.890C>A MANE Select	NP_036566.1:p.Ala297Glu
NM_001382629.1:c.659C>A	NP_001369558.1:p.Ala220Glu
NM_001382630.1:c.890C>A	NP_001369559.1:p.Ala297Glu
NM_001382631.1:c.911C>A	NP_001369560.1:p.Ala304Glu
NM_001382632.1:c.803C>A	NP_001369561.1:p.Ala268Glu
NM_001382633.1:c.890C>A	NP_001369562.1:p.Ala297Glu
NM_001382634.1:c.820-6445C>A	NP_001369563.1:n.820-6445C>A
NM_001382635.1:c.887C>A	NP_001369564.1:p.Ala296Glu
NM_001382636.1:c.572C>A	NP_001369565.1:p.Ala191Glu