Canonical Allele Identifier: CA3890395

Gene: SLC17A5

Linked Data

• ClinVar Variation Id: 440272
• ClinVar RCV Id: RCV000506820 ; RCV000670139 ; RCV000763561 ; RCV001270049 ; RCV001093179
• dbSNP Id: rs201284672
• ExAC: 6:74331587 A / C
• gnomAD v2: 6-74331587-A-C
• gnomAD v3: 6-73621864-A-C
• gnomAD v4: 6-73621864-A-C
• MyVariant Identifiers: chr6:g.74331587A>C (hg19) ; chr6:g.73621864A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73621864A>C , CM000668.2:g.73621864A>C	GRCh38
NC_000006.11:g.74331587A>C , CM000668.1:g.74331587A>C	GRCh37
NC_000006.10:g.74388308A>C	NCBI36
NG_008272.1:g.37151T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.918T>G MANE Select	ENSP00000348019.5:p.Tyr306Ter
ENST00000355773.5:c.918T>G	ENSP00000348019.5:p.Tyr306Ter
NM_012434.4:c.918T>G	NP_036566.1:p.Tyr306Ter
XM_005248710.2:c.867T>G	XP_005248767.1:p.Tyr289Ter
XM_005248711.1:c.720T>G	XP_005248768.1:p.Tyr240Ter
XM_011535750.1:c.918T>G	XP_011534052.1:p.Tyr306Ter
NM_012434.5:c.918T>G MANE Select	NP_036566.1:p.Tyr306Ter
NM_001382629.1:c.687T>G	NP_001369558.1:p.Tyr229Ter
NM_001382630.1:c.918T>G	NP_001369559.1:p.Tyr306Ter
NM_001382631.1:c.939T>G	NP_001369560.1:p.Tyr313Ter
NM_001382632.1:c.831T>G	NP_001369561.1:p.Tyr277Ter
NM_001382633.1:c.918T>G	NP_001369562.1:p.Tyr306Ter
NM_001382634.1:c.820-6417T>G	NP_001369563.1:n.820-6417T>G
NM_001382635.1:c.915T>G	NP_001369564.1:p.Tyr305Ter
NM_001382636.1:c.600T>G	NP_001369565.1:p.Tyr200Ter