Canonical Allele Identifier: CA364720003

Gene: SLC17A5

Linked Data

• MyVariant Identifiers: chr6:g.74310114C>G (hg19) ; chr6:g.73600391C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73600391C>G , CM000668.2:g.73600391C>G	GRCh38
NC_000006.11:g.74310114C>G , CM000668.1:g.74310114C>G	GRCh37
NC_000006.10:g.74366835C>G	NCBI36
NG_008272.1:g.58624G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.1310G>C MANE Select	ENSP00000348019.5:p.Gly437Ala
ENST00000355773.5:c.1310G>C	ENSP00000348019.5:p.Gly437Ala
NM_012434.4:c.1310G>C	NP_036566.1:p.Gly437Ala
XM_005248710.2:c.1259G>C	XP_005248767.1:p.Gly420Ala
XM_005248711.1:c.1112G>C	XP_005248768.1:p.Gly371Ala
XM_011535750.1:c.1162G>C	XP_011534052.1:p.Glu388Gln
NM_012434.5:c.1310G>C MANE Select	NP_036566.1:p.Gly437Ala
NM_001382629.1:c.1079G>C	NP_001369558.1:p.Gly360Ala
NM_001382630.1:c.1260-5177G>C	NP_001369559.1:n.1260-5177G>C
NM_001382631.1:c.1331G>C	NP_001369560.1:p.Gly444Ala
NM_001382632.1:c.1223G>C	NP_001369561.1:p.Gly408Ala
NM_001382633.1:c.1310G>C	NP_001369562.1:p.Gly437Ala
NM_001382634.1:c.1151G>C	NP_001369563.1:p.Gly384Ala
NM_001382635.1:c.1307G>C	NP_001369564.1:p.Gly436Ala
NM_001382636.1:c.992G>C	NP_001369565.1:p.Gly331Ala