Canonical Allele Identifier: CA364720012

Gene: SLC17A5

Linked Data

• dbSNP Id: rs1767002164
• MyVariant Identifiers: chr6:g.74310118G>C (hg19) ; chr6:g.73600395G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73600395G>C , CM000668.2:g.73600395G>C	GRCh38
NC_000006.11:g.74310118G>C , CM000668.1:g.74310118G>C	GRCh37
NC_000006.10:g.74366839G>C	NCBI36
NG_008272.1:g.58620C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.1306C>G MANE Select	ENSP00000348019.5:p.Pro436Ala
ENST00000355773.5:c.1306C>G	ENSP00000348019.5:p.Pro436Ala
NM_012434.4:c.1306C>G	NP_036566.1:p.Pro436Ala
XM_005248710.2:c.1255C>G	XP_005248767.1:p.Pro419Ala
XM_005248711.1:c.1108C>G	XP_005248768.1:p.Pro370Ala
XM_011535750.1:c.1158C>G	XP_011534052.1:p.Phe386Leu
NM_012434.5:c.1306C>G MANE Select	NP_036566.1:p.Pro436Ala
NM_001382629.1:c.1075C>G	NP_001369558.1:p.Pro359Ala
NM_001382630.1:c.1260-5181C>G	NP_001369559.1:n.1260-5181C>G
NM_001382631.1:c.1327C>G	NP_001369560.1:p.Pro443Ala
NM_001382632.1:c.1219C>G	NP_001369561.1:p.Pro407Ala
NM_001382633.1:c.1306C>G	NP_001369562.1:p.Pro436Ala
NM_001382634.1:c.1147C>G	NP_001369563.1:p.Pro383Ala
NM_001382635.1:c.1303C>G	NP_001369564.1:p.Pro435Ala
NM_001382636.1:c.988C>G	NP_001369565.1:p.Pro330Ala