Canonical Allele Identifier: CA450912742

Gene: SLC17A5

Linked Data

• MyVariant Identifiers: chr6:g.74310158A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73600435A>G , CM000668.2:g.73600435A>G	GRCh38
NC_000006.11:g.74310158A>G , CM000668.1:g.74310158A>G	GRCh37
NC_000006.10:g.74366879A>G	NCBI36
NG_008272.1:g.58580T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.1266T>C MANE Select	ENSP00000348019.5:p.Ala422=
ENST00000355773.5:c.1266T>C	ENSP00000348019.5:p.Ala422=
NM_012434.4:c.1266T>C	NP_036566.1:p.Ala422=
XM_005248710.2:c.1215T>C	XP_005248767.1:p.Ala405=
XM_005248711.1:c.1068T>C	XP_005248768.1:p.Ala356=
XM_011535750.1:c.1118T>C	XP_011534052.1:p.Leu373Pro
NM_012434.5:c.1266T>C MANE Select	NP_036566.1:p.Ala422=
NM_001382629.1:c.1035T>C	NP_001369558.1:p.Ala345=
NM_001382630.1:c.1260-5221T>C	NP_001369559.1:n.1260-5221T>C
NM_001382631.1:c.1287T>C	NP_001369560.1:p.Ala429=
NM_001382632.1:c.1179T>C	NP_001369561.1:p.Ala393=
NM_001382633.1:c.1266T>C	NP_001369562.1:p.Ala422=
NM_001382634.1:c.1107T>C	NP_001369563.1:p.Ala369=
NM_001382635.1:c.1263T>C	NP_001369564.1:p.Ala421=
NM_001382636.1:c.948T>C	NP_001369565.1:p.Ala316=