Canonical Allele Identifier: CA364720053

Gene: SLC17A5

Linked Data

• dbSNP Id: rs1767003006
• MyVariant Identifiers: chr6:g.74310138G>A (hg19) ; chr6:g.73600415G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73600415G>A , CM000668.2:g.73600415G>A	GRCh38
NC_000006.11:g.74310138G>A , CM000668.1:g.74310138G>A	GRCh37
NC_000006.10:g.74366859G>A	NCBI36
NG_008272.1:g.58600C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.1286C>T MANE Select	ENSP00000348019.5:p.Thr429Ile
ENST00000355773.5:c.1286C>T	ENSP00000348019.5:p.Thr429Ile
NM_012434.4:c.1286C>T	NP_036566.1:p.Thr429Ile
XM_005248710.2:c.1235C>T	XP_005248767.1:p.Thr412Ile
XM_005248711.1:c.1088C>T	XP_005248768.1:p.Thr363Ile
XM_011535750.1:c.1138C>T	XP_011534052.1:p.Gln380Ter
NM_012434.5:c.1286C>T MANE Select	NP_036566.1:p.Thr429Ile
NM_001382629.1:c.1055C>T	NP_001369558.1:p.Thr352Ile
NM_001382630.1:c.1260-5201C>T	NP_001369559.1:n.1260-5201C>T
NM_001382631.1:c.1307C>T	NP_001369560.1:p.Thr436Ile
NM_001382632.1:c.1199C>T	NP_001369561.1:p.Thr400Ile
NM_001382633.1:c.1286C>T	NP_001369562.1:p.Thr429Ile
NM_001382634.1:c.1127C>T	NP_001369563.1:p.Thr376Ile
NM_001382635.1:c.1283C>T	NP_001369564.1:p.Thr428Ile
NM_001382636.1:c.968C>T	NP_001369565.1:p.Thr323Ile