Canonical Allele Identifier: CA1087052710

Gene: SLC17A3

Linked Data

• dbSNP Id: rs1765598109
• gnomAD v3: 6-25869211-C-A
• gnomAD v4: 6-25869211-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.25869211C>A , CM000668.2:g.25869211C>A	GRCh38
NC_000006.11:g.25869439C>A , CM000668.1:g.25869439C>A	GRCh37
NC_000006.10:g.25977418C>A	NCBI36
NG_032922.1:g.10033G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360657.7:c.-33-791G>T	ENSP00000353873.3:n.-33-791G>T
ENST00000361703.10:c.-33-791G>T	ENSP00000355307.6:n.-33-791G>T
ENST00000397060.8:c.-33-791G>T MANE Select	ENSP00000380250.4:n.-33-791G>T
ENST00000503922.5:n.73-791G>T
ENST00000506105.5:c.-33-791G>T	ENSP00000424729.1:n.-33-791G>T
NM_001098486.1:c.-33-791G>T	NP_001091956.1:n.-33-791G>T
NM_006632.3:c.-33-791G>T	NP_006623.2:n.-33-791G>T
NM_001098486.2:c.-33-791G>T MANE Select	NP_001091956.1:n.-33-791G>T
NM_006632.4:c.-33-791G>T	NP_006623.2:n.-33-791G>T