Canonical Allele Identifier: CA144089
Gene: SLC26A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 55993
ClinVar RCV Id: RCV000049402
dbSNP Id: rs386833475

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107767763T>C , CM000669.2:g.107767763T>C GRCh38
NC_000007.13:g.107408208T>C , CM000669.1:g.107408208T>C GRCh37
NC_000007.12:g.107195444T>C NCBI36
NG_008046.1:g.40471A>G , LRG_683:g.40471A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000340010.10:c.2205+3A>G MANE Select ENSP00000345873.5:n.2205+3A>G
ENST00000340010.9:c.2205+3A>G ENSP00000345873.5:n.2205+3A>G
ENST00000379083.7:c.*1762+3A>G ENSP00000368375.3:n.*1762+3A>G
NM_000111.2:c.2205+3A>G , LRG_683t1:c.2205+3A>G NP_000102.1:n.2205+3A>G
XM_011515867.1:c.2205+3A>G XP_011514169.1:n.2205+3A>G
NM_000111.3:c.2205+3A>G MANE Select NP_000102.1:n.2205+3A>G