Canonical Allele Identifier: CA364719975

Gene: SLC17A5

Linked Data

• MyVariant Identifiers: chr6:g.74310099A>C (hg19) ; chr6:g.73600376A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73600376A>C , CM000668.2:g.73600376A>C	GRCh38
NC_000006.11:g.74310099A>C , CM000668.1:g.74310099A>C	GRCh37
NC_000006.10:g.74366820A>C	NCBI36
NG_008272.1:g.58639T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.1325T>G MANE Select	ENSP00000348019.5:p.Val442Gly
ENST00000355773.5:c.1325T>G	ENSP00000348019.5:p.Val442Gly
NM_012434.4:c.1325T>G	NP_036566.1:p.Val442Gly
XM_005248710.2:c.1274T>G	XP_005248767.1:p.Val425Gly
XM_005248711.1:c.1127T>G	XP_005248768.1:p.Val376Gly
XM_011535750.1:c.1177T>G	XP_011534052.1:p.Ser393Ala
NM_012434.5:c.1325T>G MANE Select	NP_036566.1:p.Val442Gly
NM_001382629.1:c.1094T>G	NP_001369558.1:p.Val365Gly
NM_001382630.1:c.1260-5162T>G	NP_001369559.1:n.1260-5162T>G
NM_001382631.1:c.1346T>G	NP_001369560.1:p.Val449Gly
NM_001382632.1:c.1238T>G	NP_001369561.1:p.Val413Gly
NM_001382633.1:c.1325T>G	NP_001369562.1:p.Val442Gly
NM_001382634.1:c.1166T>G	NP_001369563.1:p.Val389Gly
NM_001382635.1:c.1322T>G	NP_001369564.1:p.Val441Gly
NM_001382636.1:c.1007T>G	NP_001369565.1:p.Val336Gly