Canonical Allele Identifier: CA2578989670
Gene: SLC26A3 HGNC NCBI

Linked Data

dbSNP Id: rs1374267997
gnomAD v4: 7-107779599-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107779599G>A , CM000669.2:g.107779599G>A GRCh38
NC_000007.13:g.107420044G>A , CM000669.1:g.107420044G>A GRCh37
NC_000007.12:g.107207280G>A NCBI36
NG_008046.1:g.28635C>T , LRG_683:g.28635C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000340010.10:c.1407+69C>T MANE Select ENSP00000345873.5:n.1407+69C>T
ENST00000340010.9:c.1407+69C>T ENSP00000345873.5:n.1407+69C>T
ENST00000379083.7:c.*1198+69C>T ENSP00000368375.3:n.*1198+69C>T
NM_000111.2:c.1407+69C>T , LRG_683t1:c.1407+69C>T NP_000102.1:n.1407+69C>T
XM_011515867.1:c.1407+69C>T XP_011514169.1:n.1407+69C>T
NM_000111.3:c.1407+69C>T MANE Select NP_000102.1:n.1407+69C>T
Search 100 bp 5'
Search 100 bp 3'