Canonical Allele Identifier: CA2697553540

Gene: SLC17A5

Linked Data

• ClinVar Variation Id: 2769439
• ClinVar RCV Id: RCV003505636

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73600338A>C , CM000668.2:g.73600338A>C	GRCh38
NC_000006.11:g.74310061A>C , CM000668.1:g.74310061A>C	GRCh37
NC_000006.10:g.74366782A>C	NCBI36
NG_008272.1:g.58677T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.1350+13T>G MANE Select	ENSP00000348019.5:n.1350+13T>G
ENST00000355773.5:c.1350+13T>G	ENSP00000348019.5:n.1350+13T>G
NM_012434.4:c.1350+13T>G	NP_036566.1:n.1350+13T>G
XM_005248710.2:c.1299+13T>G	XP_005248767.1:n.1299+13T>G
XM_005248711.1:c.1152+13T>G	XP_005248768.1:n.1152+13T>G
XM_011535750.1:c.*8+13T>G	XP_011534052.1:n.*8+13T>G
NM_012434.5:c.1350+13T>G MANE Select	NP_036566.1:n.1350+13T>G
NM_001382629.1:c.1119+13T>G	NP_001369558.1:n.1119+13T>G
NM_001382630.1:c.1260-5124T>G	NP_001369559.1:n.1260-5124T>G
NM_001382631.1:c.1371+13T>G	NP_001369560.1:n.1371+13T>G
NM_001382632.1:c.1263+13T>G	NP_001369561.1:n.1263+13T>G
NM_001382633.1:c.1350+13T>G	NP_001369562.1:n.1350+13T>G
NM_001382634.1:c.1191+13T>G	NP_001369563.1:n.1191+13T>G
NM_001382635.1:c.1347+13T>G	NP_001369564.1:n.1347+13T>G
NM_001382636.1:c.1032+13T>G	NP_001369565.1:n.1032+13T>G