Canonical Allele Identifier: CA144046
Gene: SLC26A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 55967
ClinVar RCV Id: RCV000049376
dbSNP Id: rs386833449

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107779764C>T , CM000669.2:g.107779764C>T GRCh38
NC_000007.13:g.107420209C>T , CM000669.1:g.107420209C>T GRCh37
NC_000007.12:g.107207445C>T NCBI36
NG_008046.1:g.28470G>A , LRG_683:g.28470G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000340010.10:c.1312-1G>A MANE Select ENSP00000345873.5:n.1312-1G>A
ENST00000340010.9:c.1312-1G>A ENSP00000345873.5:n.1312-1G>A
ENST00000379083.7:c.*1103-1G>A ENSP00000368375.3:n.*1103-1G>A
NM_000111.2:c.1312-1G>A , LRG_683t1:c.1312-1G>A NP_000102.1:n.1312-1G>A
XM_011515867.1:c.1312-1G>A XP_011514169.1:n.1312-1G>A
NM_000111.3:c.1312-1G>A MANE Select NP_000102.1:n.1312-1G>A