Canonical Allele Identifier: CA364719969

Gene: SLC17A5

Linked Data

• gnomAD v4: 6-73600373-A-G
• MyVariant Identifiers: chr6:g.74310096A>G (hg19) ; chr6:g.73600373A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73600373A>G , CM000668.2:g.73600373A>G	GRCh38
NC_000006.11:g.74310096A>G , CM000668.1:g.74310096A>G	GRCh37
NC_000006.10:g.74366817A>G	NCBI36
NG_008272.1:g.58642T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.1328T>C MANE Select	ENSP00000348019.5:p.Ile443Thr
ENST00000355773.5:c.1328T>C	ENSP00000348019.5:p.Ile443Thr
NM_012434.4:c.1328T>C	NP_036566.1:p.Ile443Thr
XM_005248710.2:c.1277T>C	XP_005248767.1:p.Ile426Thr
XM_005248711.1:c.1130T>C	XP_005248768.1:p.Ile377Thr
XM_011535750.1:c.1180T>C	XP_011534052.1:p.Leu394=
NM_012434.5:c.1328T>C MANE Select	NP_036566.1:p.Ile443Thr
NM_001382629.1:c.1097T>C	NP_001369558.1:p.Ile366Thr
NM_001382630.1:c.1260-5159T>C	NP_001369559.1:n.1260-5159T>C
NM_001382631.1:c.1349T>C	NP_001369560.1:p.Ile450Thr
NM_001382632.1:c.1241T>C	NP_001369561.1:p.Ile414Thr
NM_001382633.1:c.1328T>C	NP_001369562.1:p.Ile443Thr
NM_001382634.1:c.1169T>C	NP_001369563.1:p.Ile390Thr
NM_001382635.1:c.1325T>C	NP_001369564.1:p.Ile442Thr
NM_001382636.1:c.1010T>C	NP_001369565.1:p.Ile337Thr