Canonical Allele Identifier: CA253539

Gene: SLC17A5

Linked Data

• ClinVar Variation Id: 5619
• ClinVar RCV Id: RCV000005971 ; RCV002496276 ; RCV002512816
• dbSNP Id: rs119491110
• MyVariant Identifiers: chr6:g.74325148G>C (hg19) ; chr6:g.73615425G>C (hg38)
• PubMed: PMID:10581036

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73615425G>C , CM000668.2:g.73615425G>C	GRCh38
NC_000006.11:g.74325148G>C , CM000668.1:g.74325148G>C	GRCh37
NC_000006.10:g.74381869G>C	NCBI36
NG_008272.1:g.43590C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.1001C>G MANE Select	ENSP00000348019.5:p.Pro334Arg
ENST00000355773.5:c.1001C>G	ENSP00000348019.5:p.Pro334Arg
NM_012434.4:c.1001C>G	NP_036566.1:p.Pro334Arg
XM_005248710.2:c.950C>G	XP_005248767.1:p.Pro317Arg
XM_005248711.1:c.803C>G	XP_005248768.1:p.Pro268Arg
XM_011535750.1:c.1001C>G	XP_011534052.1:p.Pro334Arg
NM_012434.5:c.1001C>G MANE Select	NP_036566.1:p.Pro334Arg
NM_001382629.1:c.770C>G	NP_001369558.1:p.Pro257Arg
NM_001382630.1:c.1001C>G	NP_001369559.1:p.Pro334Arg
NM_001382631.1:c.1022C>G	NP_001369560.1:p.Pro341Arg
NM_001382632.1:c.914C>G	NP_001369561.1:p.Pro305Arg
NM_001382633.1:c.1001C>G	NP_001369562.1:p.Pro334Arg
NM_001382634.1:c.842C>G	NP_001369563.1:p.Pro281Arg
NM_001382635.1:c.998C>G	NP_001369564.1:p.Pro333Arg
NM_001382636.1:c.683C>G	NP_001369565.1:p.Pro228Arg