Canonical Allele Identifier: CA364719929

Gene: SLC17A5

Linked Data

• dbSNP Id: rs1368129574
• gnomAD v2: 6-74310076-C-T
• gnomAD v4: 6-73600353-C-T
• MyVariant Identifiers: chr6:g.74310076C>T (hg19) ; chr6:g.73600353C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73600353C>T , CM000668.2:g.73600353C>T	GRCh38
NC_000006.11:g.74310076C>T , CM000668.1:g.74310076C>T	GRCh37
NC_000006.10:g.74366797C>T	NCBI36
NG_008272.1:g.58662G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355773.6:c.1348G>A MANE Select	ENSP00000348019.5:p.Asp450Asn
ENST00000355773.5:c.1348G>A	ENSP00000348019.5:p.Asp450Asn
NM_012434.4:c.1348G>A	NP_036566.1:p.Asp450Asn
XM_005248710.2:c.1297G>A	XP_005248767.1:p.Asp433Asn
XM_005248711.1:c.1150G>A	XP_005248768.1:p.Asp384Asn
XM_011535750.1:c.*6G>A	XP_011534052.1:n.*6G>A
NM_012434.5:c.1348G>A MANE Select	NP_036566.1:p.Asp450Asn
NM_001382629.1:c.1117G>A	NP_001369558.1:p.Asp373Asn
NM_001382630.1:c.1260-5139G>A	NP_001369559.1:n.1260-5139G>A
NM_001382631.1:c.1369G>A	NP_001369560.1:p.Asp457Asn
NM_001382632.1:c.1261G>A	NP_001369561.1:p.Asp421Asn
NM_001382633.1:c.1348G>A	NP_001369562.1:p.Asp450Asn
NM_001382634.1:c.1189G>A	NP_001369563.1:p.Asp397Asn
NM_001382635.1:c.1345G>A	NP_001369564.1:p.Asp449Asn
NM_001382636.1:c.1030G>A	NP_001369565.1:p.Asp344Asn