Canonical Allele Identifier: CA364720071

Gene: SLC17A5

Linked Data

• MyVariant Identifiers: chr6:g.74310145C>T (hg19) ; chr6:g.73600422C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73600422C>T , CM000668.2:g.73600422C>T	GRCh38
NC_000006.11:g.74310145C>T , CM000668.1:g.74310145C>T	GRCh37
NC_000006.10:g.74366866C>T	NCBI36
NG_008272.1:g.58593G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.1279G>A MANE Select	ENSP00000348019.5:p.Gly427Ser
ENST00000355773.5:c.1279G>A	ENSP00000348019.5:p.Gly427Ser
NM_012434.4:c.1279G>A	NP_036566.1:p.Gly427Ser
XM_005248710.2:c.1228G>A	XP_005248767.1:p.Gly410Ser
XM_005248711.1:c.1081G>A	XP_005248768.1:p.Gly361Ser
XM_011535750.1:c.1131G>A	XP_011534052.1:p.Trp377Ter
NM_012434.5:c.1279G>A MANE Select	NP_036566.1:p.Gly427Ser
NM_001382629.1:c.1048G>A	NP_001369558.1:p.Gly350Ser
NM_001382630.1:c.1260-5208G>A	NP_001369559.1:n.1260-5208G>A
NM_001382631.1:c.1300G>A	NP_001369560.1:p.Gly434Ser
NM_001382632.1:c.1192G>A	NP_001369561.1:p.Gly398Ser
NM_001382633.1:c.1279G>A	NP_001369562.1:p.Gly427Ser
NM_001382634.1:c.1120G>A	NP_001369563.1:p.Gly374Ser
NM_001382635.1:c.1276G>A	NP_001369564.1:p.Gly426Ser
NM_001382636.1:c.961G>A	NP_001369565.1:p.Gly321Ser