Canonical Allele Identifier: CA364720028

Gene: SLC17A5

Linked Data

• MyVariant Identifiers: chr6:g.74310126G>T (hg19) ; chr6:g.73600403G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73600403G>T , CM000668.2:g.73600403G>T	GRCh38
NC_000006.11:g.74310126G>T , CM000668.1:g.74310126G>T	GRCh37
NC_000006.10:g.74366847G>T	NCBI36
NG_008272.1:g.58612C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.1298C>A MANE Select	ENSP00000348019.5:p.Ala433Asp
ENST00000355773.5:c.1298C>A	ENSP00000348019.5:p.Ala433Asp
NM_012434.4:c.1298C>A	NP_036566.1:p.Ala433Asp
XM_005248710.2:c.1247C>A	XP_005248767.1:p.Ala416Asp
XM_005248711.1:c.1100C>A	XP_005248768.1:p.Ala367Asp
XM_011535750.1:c.1150C>A	XP_011534052.1:p.Pro384Thr
NM_012434.5:c.1298C>A MANE Select	NP_036566.1:p.Ala433Asp
NM_001382629.1:c.1067C>A	NP_001369558.1:p.Ala356Asp
NM_001382630.1:c.1260-5189C>A	NP_001369559.1:n.1260-5189C>A
NM_001382631.1:c.1319C>A	NP_001369560.1:p.Ala440Asp
NM_001382632.1:c.1211C>A	NP_001369561.1:p.Ala404Asp
NM_001382633.1:c.1298C>A	NP_001369562.1:p.Ala433Asp
NM_001382634.1:c.1139C>A	NP_001369563.1:p.Ala380Asp
NM_001382635.1:c.1295C>A	NP_001369564.1:p.Ala432Asp
NM_001382636.1:c.980C>A	NP_001369565.1:p.Ala327Asp