Canonical Allele Identifier: CA144097
Gene: SLC26A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 55999
ClinVar RCV Id: RCV000049408
dbSNP Id: rs386833481

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107791226G>C , CM000669.2:g.107791226G>C GRCh38
NC_000007.13:g.107431671G>C , CM000669.1:g.107431671G>C GRCh37
NC_000007.12:g.107218907G>C NCBI36
NG_008046.1:g.17008C>G , LRG_683:g.17008C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000340010.10:c.392C>G MANE Select ENSP00000345873.5:p.Pro131Arg
ENST00000340010.9:c.392C>G ENSP00000345873.5:p.Pro131Arg
ENST00000379083.7:c.*183C>G ENSP00000368375.3:n.*183C>G
NM_000111.2:c.392C>G , LRG_683t1:c.392C>G NP_000102.1:p.Pro131Arg
XM_011515867.1:c.392C>G XP_011514169.1:p.Pro131Arg
NM_000111.3:c.392C>G MANE Select NP_000102.1:p.Pro131Arg