Canonical Allele Identifier: CA364720067

Gene: SLC17A5

Linked Data

• MyVariant Identifiers: chr6:g.74310144C>T (hg19) ; chr6:g.73600421C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73600421C>T , CM000668.2:g.73600421C>T	GRCh38
NC_000006.11:g.74310144C>T , CM000668.1:g.74310144C>T	GRCh37
NC_000006.10:g.74366865C>T	NCBI36
NG_008272.1:g.58594G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.1280G>A MANE Select	ENSP00000348019.5:p.Gly427Asp
ENST00000355773.5:c.1280G>A	ENSP00000348019.5:p.Gly427Asp
NM_012434.4:c.1280G>A	NP_036566.1:p.Gly427Asp
XM_005248710.2:c.1229G>A	XP_005248767.1:p.Gly410Asp
XM_005248711.1:c.1082G>A	XP_005248768.1:p.Gly361Asp
XM_011535750.1:c.1132G>A	XP_011534052.1:p.Ala378Thr
NM_012434.5:c.1280G>A MANE Select	NP_036566.1:p.Gly427Asp
NM_001382629.1:c.1049G>A	NP_001369558.1:p.Gly350Asp
NM_001382630.1:c.1260-5207G>A	NP_001369559.1:n.1260-5207G>A
NM_001382631.1:c.1301G>A	NP_001369560.1:p.Gly434Asp
NM_001382632.1:c.1193G>A	NP_001369561.1:p.Gly398Asp
NM_001382633.1:c.1280G>A	NP_001369562.1:p.Gly427Asp
NM_001382634.1:c.1121G>A	NP_001369563.1:p.Gly374Asp
NM_001382635.1:c.1277G>A	NP_001369564.1:p.Gly426Asp
NM_001382636.1:c.962G>A	NP_001369565.1:p.Gly321Asp