Canonical Allele Identifier: CA364720100

Gene: SLC17A5

Linked Data

• gnomAD v4: 6-73600437-C-T
• MyVariant Identifiers: chr6:g.74310160C>T (hg19) ; chr6:g.73600437C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73600437C>T , CM000668.2:g.73600437C>T	GRCh38
NC_000006.11:g.74310160C>T , CM000668.1:g.74310160C>T	GRCh37
NC_000006.10:g.74366881C>T	NCBI36
NG_008272.1:g.58578G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.1264G>A MANE Select	ENSP00000348019.5:p.Ala422Thr
ENST00000355773.5:c.1264G>A	ENSP00000348019.5:p.Ala422Thr
NM_012434.4:c.1264G>A	NP_036566.1:p.Ala422Thr
XM_005248710.2:c.1213G>A	XP_005248767.1:p.Ala405Thr
XM_005248711.1:c.1066G>A	XP_005248768.1:p.Ala356Thr
XM_011535750.1:c.1116G>A	XP_011534052.1:p.Met372Ile
NM_012434.5:c.1264G>A MANE Select	NP_036566.1:p.Ala422Thr
NM_001382629.1:c.1033G>A	NP_001369558.1:p.Ala345Thr
NM_001382630.1:c.1260-5223G>A	NP_001369559.1:n.1260-5223G>A
NM_001382631.1:c.1285G>A	NP_001369560.1:p.Ala429Thr
NM_001382632.1:c.1177G>A	NP_001369561.1:p.Ala393Thr
NM_001382633.1:c.1264G>A	NP_001369562.1:p.Ala422Thr
NM_001382634.1:c.1105G>A	NP_001369563.1:p.Ala369Thr
NM_001382635.1:c.1261G>A	NP_001369564.1:p.Ala421Thr
NM_001382636.1:c.946G>A	NP_001369565.1:p.Ala316Thr