Canonical Allele Identifier: CA3890289

Gene: SLC17A5

Linked Data

• dbSNP Id: rs754509947
• ExAC: 6:74310099 A / G
• gnomAD v2: 6-74310099-A-G
• gnomAD v4: 6-73600376-A-G
• MyVariant Identifiers: chr6:g.74310099A>G (hg19) ; chr6:g.73600376A>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.1325T>C MANE Select	ENSP00000348019.5:p.Val442Ala
ENST00000355773.5:c.1325T>C	ENSP00000348019.5:p.Val442Ala
NM_012434.4:c.1325T>C	NP_036566.1:p.Val442Ala
XM_005248710.2:c.1274T>C	XP_005248767.1:p.Val425Ala
XM_005248711.1:c.1127T>C	XP_005248768.1:p.Val376Ala
XM_011535750.1:c.1177T>C	XP_011534052.1:p.Ser393Pro
NM_012434.5:c.1325T>C MANE Select	NP_036566.1:p.Val442Ala
NM_001382629.1:c.1094T>C	NP_001369558.1:p.Val365Ala
NM_001382630.1:c.1260-5162T>C	NP_001369559.1:n.1260-5162T>C
NM_001382631.1:c.1346T>C	NP_001369560.1:p.Val449Ala
NM_001382632.1:c.1238T>C	NP_001369561.1:p.Val413Ala
NM_001382633.1:c.1325T>C	NP_001369562.1:p.Val442Ala
NM_001382634.1:c.1166T>C	NP_001369563.1:p.Val389Ala
NM_001382635.1:c.1322T>C	NP_001369564.1:p.Val441Ala
NM_001382636.1:c.1007T>C	NP_001369565.1:p.Val336Ala