Canonical Allele Identifier: CA364720956

Gene: SLC17A5

Linked Data

• MyVariant Identifiers: chr6:g.74320160A>C (hg19) ; chr6:g.73610437A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73610437A>C , CM000668.2:g.73610437A>C	GRCh38
NC_000006.11:g.74320160A>C , CM000668.1:g.74320160A>C	GRCh37
NC_000006.10:g.74376881A>C	NCBI36
NG_008272.1:g.48578T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355773.6:c.1222T>G MANE Select	ENSP00000348019.5:p.Ser408Ala
ENST00000355773.5:c.1222T>G	ENSP00000348019.5:p.Ser408Ala
NM_012434.4:c.1222T>G	NP_036566.1:p.Ser408Ala
XM_005248710.2:c.1171T>G	XP_005248767.1:p.Ser391Ala
XM_005248711.1:c.1024T>G	XP_005248768.1:p.Ser342Ala
XM_011535750.1:c.1111+4878T>G	XP_011534052.1:n.1111+4878T>G
NM_012434.5:c.1222T>G MANE Select	NP_036566.1:p.Ser408Ala
NM_001382629.1:c.991T>G	NP_001369558.1:p.Ser331Ala
NM_001382630.1:c.1222T>G	NP_001369559.1:p.Ser408Ala
NM_001382631.1:c.1243T>G	NP_001369560.1:p.Ser415Ala
NM_001382632.1:c.1135T>G	NP_001369561.1:p.Ser379Ala
NM_001382633.1:c.1222T>G	NP_001369562.1:p.Ser408Ala
NM_001382634.1:c.1063T>G	NP_001369563.1:p.Ser355Ala
NM_001382635.1:c.1219T>G	NP_001369564.1:p.Ser407Ala
NM_001382636.1:c.904T>G	NP_001369565.1:p.Ser302Ala