Canonical Allele Identifier: CA823429631
Gene: SLC17A3 HGNC NCBI

Linked Data

dbSNP Id: rs1468491804
gnomAD v3: 6-25869148-C-A
gnomAD v4: 6-25869148-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.25869148C>A , CM000668.2:g.25869148C>A GRCh38
NC_000006.11:g.25869376C>A , CM000668.1:g.25869376C>A GRCh37
NC_000006.10:g.25977355C>A NCBI36
NG_032922.1:g.10096G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360657.7:c.-33-728G>T ENSP00000353873.3:n.-33-728G>T
ENST00000361703.10:c.-33-728G>T ENSP00000355307.6:n.-33-728G>T
ENST00000397060.8:c.-33-728G>T MANE Select ENSP00000380250.4:n.-33-728G>T
ENST00000503922.5:n.73-728G>T
ENST00000506105.5:c.-33-728G>T ENSP00000424729.1:n.-33-728G>T
NM_001098486.1:c.-33-728G>T NP_001091956.1:n.-33-728G>T
NM_006632.3:c.-33-728G>T NP_006623.2:n.-33-728G>T
NM_001098486.2:c.-33-728G>T MANE Select NP_001091956.1:n.-33-728G>T
NM_006632.4:c.-33-728G>T NP_006623.2:n.-33-728G>T