Canonical Allele Identifier: CA3890578

Gene: SLC17A5

Linked Data

• ClinVar Variation Id: 1134258
• ClinVar RCV Id: RCV001469098
• dbSNP Id: rs777927222
• ExAC: 6:74354157 A / C
• gnomAD v2: 6-74354157-A-C
• gnomAD v4: 6-73644434-A-C
• MyVariant Identifiers: chr6:g.74354157A>C (hg19) ; chr6:g.73644434A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73644434A>C , CM000668.2:g.73644434A>C	GRCh38
NC_000006.11:g.74354157A>C , CM000668.1:g.74354157A>C	GRCh37
NC_000006.10:g.74410878A>C	NCBI36
NG_008272.1:g.14581T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.264T>G MANE Select	ENSP00000348019.5:p.Ala88=
ENST00000355773.5:c.264T>G	ENSP00000348019.5:p.Ala88=
ENST00000481996.1:n.30T>G
NM_012434.4:c.264T>G	NP_036566.1:p.Ala88=
XM_005248710.2:c.213T>G	XP_005248767.1:p.Ala71=
XM_005248711.1:c.66T>G	XP_005248768.1:p.Ala22=
XM_011535750.1:c.264T>G	XP_011534052.1:p.Ala88=
XM_011535751.1:c.264T>G	XP_011534053.1:p.Ala88=
NM_012434.5:c.264T>G MANE Select	NP_036566.1:p.Ala88=
NM_001382629.1:c.61-2510T>G	NP_001369558.1:n.61-2510T>G
NM_001382630.1:c.264T>G	NP_001369559.1:p.Ala88=
NM_001382631.1:c.285T>G	NP_001369560.1:p.Ala95=
NM_001382632.1:c.264T>G	NP_001369561.1:p.Ala88=
NM_001382633.1:c.264T>G	NP_001369562.1:p.Ala88=
NM_001382634.1:c.264T>G	NP_001369563.1:p.Ala88=
NM_001382635.1:c.264T>G	NP_001369564.1:p.Ala88=
NM_001382636.1:c.61-2510T>G	NP_001369565.1:n.61-2510T>G