Canonical Allele Identifier: CA342129

Gene: SLC17A5

Linked Data

• ClinVar Variation Id: 21493
• ClinVar RCV Id: RCV000020682 ; RCV000412731 ; RCV000763562 ; RCV001095364
• dbSNP Id: rs80338795
• ExAC: 6:74351533 T / C
• gnomAD v2: 6-74351533-T-C
• gnomAD v3: 6-73641810-T-C
• gnomAD v4: 6-73641810-T-C
• MyVariant Identifiers: chr6:g.74351533T>C (hg19) ; chr6:g.73641810T>C (hg38)
• PubMed: PMID:10947946 ; PMID:15510212 ; PMID:15516337 ; PMID:16170568 ; PMID:20301643 ; PMID:21781115

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73641810T>C , CM000668.2:g.73641810T>C	GRCh38
NC_000006.11:g.74351533T>C , CM000668.1:g.74351533T>C	GRCh37
NC_000006.10:g.74408254T>C	NCBI36
NG_008272.1:g.17205A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.406A>G MANE Select	ENSP00000348019.5:p.Lys136Glu
ENST00000355773.5:c.406A>G	ENSP00000348019.5:p.Lys136Glu
ENST00000481996.1:n.172A>G
NM_012434.4:c.406A>G	NP_036566.1:p.Lys136Glu
XM_005248710.2:c.355A>G	XP_005248767.1:p.Lys119Glu
XM_005248711.1:c.208A>G	XP_005248768.1:p.Lys70Glu
XM_011535750.1:c.406A>G	XP_011534052.1:p.Lys136Glu
XM_011535751.1:c.406A>G	XP_011534053.1:p.Lys136Glu
NM_012434.5:c.406A>G MANE Select	NP_036566.1:p.Lys136Glu
NM_001382629.1:c.175A>G	NP_001369558.1:p.Lys59Glu
NM_001382630.1:c.406A>G	NP_001369559.1:p.Lys136Glu
NM_001382631.1:c.427A>G	NP_001369560.1:p.Lys143Glu
NM_001382632.1:c.406A>G	NP_001369561.1:p.Lys136Glu
NM_001382633.1:c.406A>G	NP_001369562.1:p.Lys136Glu
NM_001382634.1:c.406A>G	NP_001369563.1:p.Lys136Glu
NM_001382635.1:c.406A>G	NP_001369564.1:p.Lys136Glu
NM_001382636.1:c.175A>G	NP_001369565.1:p.Lys59Glu