Canonical Allele Identifier: CA364720050

Gene: SLC17A5

Linked Data

• gnomAD v4: 6-73600413-T-C
• MyVariant Identifiers: chr6:g.74310136T>C (hg19) ; chr6:g.73600413T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73600413T>C , CM000668.2:g.73600413T>C	GRCh38
NC_000006.11:g.74310136T>C , CM000668.1:g.74310136T>C	GRCh37
NC_000006.10:g.74366857T>C	NCBI36
NG_008272.1:g.58602A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.1288A>G MANE Select	ENSP00000348019.5:p.Asn430Asp
ENST00000355773.5:c.1288A>G	ENSP00000348019.5:p.Asn430Asp
NM_012434.4:c.1288A>G	NP_036566.1:p.Asn430Asp
XM_005248710.2:c.1237A>G	XP_005248767.1:p.Asn413Asp
XM_005248711.1:c.1090A>G	XP_005248768.1:p.Asn364Asp
XM_011535750.1:c.1140A>G	XP_011534052.1:p.Gln380=
NM_012434.5:c.1288A>G MANE Select	NP_036566.1:p.Asn430Asp
NM_001382629.1:c.1057A>G	NP_001369558.1:p.Asn353Asp
NM_001382630.1:c.1260-5199A>G	NP_001369559.1:n.1260-5199A>G
NM_001382631.1:c.1309A>G	NP_001369560.1:p.Asn437Asp
NM_001382632.1:c.1201A>G	NP_001369561.1:p.Asn401Asp
NM_001382633.1:c.1288A>G	NP_001369562.1:p.Asn430Asp
NM_001382634.1:c.1129A>G	NP_001369563.1:p.Asn377Asp
NM_001382635.1:c.1285A>G	NP_001369564.1:p.Asn429Asp
NM_001382636.1:c.970A>G	NP_001369565.1:p.Asn324Asp