Canonical Allele Identifier: CA364719938

Gene: SLC17A5

Linked Data

• dbSNP Id: rs1319451199
• gnomAD v3: 6-73600358-G-T
• gnomAD v4: 6-73600358-G-T
• MyVariant Identifiers: chr6:g.74310081G>T (hg19) ; chr6:g.73600358G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73600358G>T , CM000668.2:g.73600358G>T	GRCh38
NC_000006.11:g.74310081G>T , CM000668.1:g.74310081G>T	GRCh37
NC_000006.10:g.74366802G>T	NCBI36
NG_008272.1:g.58657C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355773.6:c.1343C>A MANE Select	ENSP00000348019.5:p.Thr448Asn
ENST00000355773.5:c.1343C>A	ENSP00000348019.5:p.Thr448Asn
NM_012434.4:c.1343C>A	NP_036566.1:p.Thr448Asn
XM_005248710.2:c.1292C>A	XP_005248767.1:p.Thr431Asn
XM_005248711.1:c.1145C>A	XP_005248768.1:p.Thr382Asn
XM_011535750.1:c.*1C>A	XP_011534052.1:n.*1C>A
NM_012434.5:c.1343C>A MANE Select	NP_036566.1:p.Thr448Asn
NM_001382629.1:c.1112C>A	NP_001369558.1:p.Thr371Asn
NM_001382630.1:c.1260-5144C>A	NP_001369559.1:n.1260-5144C>A
NM_001382631.1:c.1364C>A	NP_001369560.1:p.Thr455Asn
NM_001382632.1:c.1256C>A	NP_001369561.1:p.Thr419Asn
NM_001382633.1:c.1343C>A	NP_001369562.1:p.Thr448Asn
NM_001382634.1:c.1184C>A	NP_001369563.1:p.Thr395Asn
NM_001382635.1:c.1340C>A	NP_001369564.1:p.Thr447Asn
NM_001382636.1:c.1025C>A	NP_001369565.1:p.Thr342Asn