Canonical Allele Identifier: CA3890602

Gene: SLC17A5

Linked Data

• ClinVar Variation Id: 431079
• ClinVar RCV Id: RCV000496107 ; RCV001332964 ; RCV001548541
• dbSNP Id: rs769235753
• ExAC: 6:74354305 C / T
• gnomAD v2: 6-74354305-C-T
• gnomAD v3: 6-73644582-C-T
• gnomAD v4: 6-73644582-C-T
• MyVariant Identifiers: chr6:g.74354305C>T (hg19) ; chr6:g.73644582C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73644582C>T , CM000668.2:g.73644582C>T	GRCh38
NC_000006.11:g.74354305C>T , CM000668.1:g.74354305C>T	GRCh37
NC_000006.10:g.74411026C>T	NCBI36
NG_008272.1:g.14433G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.116G>A MANE Select	ENSP00000348019.5:p.Arg39His
ENST00000355773.5:c.116G>A	ENSP00000348019.5:p.Arg39His
NM_012434.4:c.116G>A	NP_036566.1:p.Arg39His
XM_005248710.2:c.65G>A	XP_005248767.1:p.Arg22His
XM_005248711.1:c.-83G>A	XP_005248768.1:n.-83G>A
XM_011535750.1:c.116G>A	XP_011534052.1:p.Arg39His
XM_011535751.1:c.116G>A	XP_011534053.1:p.Arg39His
NM_012434.5:c.116G>A MANE Select	NP_036566.1:p.Arg39His
NM_001382629.1:c.61-2658G>A	NP_001369558.1:n.61-2658G>A
NM_001382630.1:c.116G>A	NP_001369559.1:p.Arg39His
NM_001382631.1:c.137G>A	NP_001369560.1:p.Arg46His
NM_001382632.1:c.116G>A	NP_001369561.1:p.Arg39His
NM_001382633.1:c.116G>A	NP_001369562.1:p.Arg39His
NM_001382634.1:c.116G>A	NP_001369563.1:p.Arg39His
NM_001382635.1:c.116G>A	NP_001369564.1:p.Arg39His
NM_001382636.1:c.61-2658G>A	NP_001369565.1:n.61-2658G>A