Canonical Allele Identifier: CA450912123

Gene: SLC17A5

Linked Data

• dbSNP Id: rs1561999766
• gnomAD v4: 6-73641757-A-G
• MyVariant Identifiers: chr6:g.74351480A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73641757A>G , CM000668.2:g.73641757A>G	GRCh38
NC_000006.11:g.74351480A>G , CM000668.1:g.74351480A>G	GRCh37
NC_000006.10:g.74408201A>G	NCBI36
NG_008272.1:g.17258T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.459T>C MANE Select	ENSP00000348019.5:p.Thr153=
ENST00000355773.5:c.459T>C	ENSP00000348019.5:p.Thr153=
ENST00000481996.1:n.225T>C
NM_012434.4:c.459T>C	NP_036566.1:p.Thr153=
XM_005248710.2:c.408T>C	XP_005248767.1:p.Thr136=
XM_005248711.1:c.261T>C	XP_005248768.1:p.Thr87=
XM_011535750.1:c.459T>C	XP_011534052.1:p.Thr153=
XM_011535751.1:c.459T>C	XP_011534053.1:p.Thr153=
NM_012434.5:c.459T>C MANE Select	NP_036566.1:p.Thr153=
NM_001382629.1:c.228T>C	NP_001369558.1:p.Thr76=
NM_001382630.1:c.459T>C	NP_001369559.1:p.Thr153=
NM_001382631.1:c.480T>C	NP_001369560.1:p.Thr160=
NM_001382632.1:c.459T>C	NP_001369561.1:p.Thr153=
NM_001382633.1:c.459T>C	NP_001369562.1:p.Thr153=
NM_001382634.1:c.459T>C	NP_001369563.1:p.Thr153=
NM_001382635.1:c.459T>C	NP_001369564.1:p.Thr153=
NM_001382636.1:c.228T>C	NP_001369565.1:p.Thr76=