Canonical Allele Identifier: CA364720092

Gene: SLC17A5

Linked Data

• dbSNP Id: rs1400358704
• COSMIC: COSM6327180
• MyVariant Identifiers: chr6:g.74310156C>T (hg19) ; chr6:g.73600433C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73600433C>T , CM000668.2:g.73600433C>T	GRCh38
NC_000006.11:g.74310156C>T , CM000668.1:g.74310156C>T	GRCh37
NC_000006.10:g.74366877C>T	NCBI36
NG_008272.1:g.58582G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.1268G>A MANE Select	ENSP00000348019.5:p.Gly423Asp
ENST00000355773.5:c.1268G>A	ENSP00000348019.5:p.Gly423Asp
NM_012434.4:c.1268G>A	NP_036566.1:p.Gly423Asp
XM_005248710.2:c.1217G>A	XP_005248767.1:p.Gly406Asp
XM_005248711.1:c.1070G>A	XP_005248768.1:p.Gly357Asp
XM_011535750.1:c.1120G>A	XP_011534052.1:p.Val374Ile
NM_012434.5:c.1268G>A MANE Select	NP_036566.1:p.Gly423Asp
NM_001382629.1:c.1037G>A	NP_001369558.1:p.Gly346Asp
NM_001382630.1:c.1260-5219G>A	NP_001369559.1:n.1260-5219G>A
NM_001382631.1:c.1289G>A	NP_001369560.1:p.Gly430Asp
NM_001382632.1:c.1181G>A	NP_001369561.1:p.Gly394Asp
NM_001382633.1:c.1268G>A	NP_001369562.1:p.Gly423Asp
NM_001382634.1:c.1109G>A	NP_001369563.1:p.Gly370Asp
NM_001382635.1:c.1265G>A	NP_001369564.1:p.Gly422Asp
NM_001382636.1:c.950G>A	NP_001369565.1:p.Gly317Asp