Canonical Allele Identifier: CA1105625809
Gene: SLC26A3 HGNC NCBI

Linked Data

dbSNP Id: rs1794182591
gnomAD v3: 7-107779576-C-T
gnomAD v4: 7-107779576-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107779576C>T , CM000669.2:g.107779576C>T GRCh38
NC_000007.13:g.107420021C>T , CM000669.1:g.107420021C>T GRCh37
NC_000007.12:g.107207257C>T NCBI36
NG_008046.1:g.28658G>A , LRG_683:g.28658G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000340010.10:c.1407+92G>A MANE Select ENSP00000345873.5:n.1407+92G>A
ENST00000340010.9:c.1407+92G>A ENSP00000345873.5:n.1407+92G>A
ENST00000379083.7:c.*1198+92G>A ENSP00000368375.3:n.*1198+92G>A
NM_000111.2:c.1407+92G>A , LRG_683t1:c.1407+92G>A NP_000102.1:n.1407+92G>A
XM_011515867.1:c.1407+92G>A XP_011514169.1:n.1407+92G>A
NM_000111.3:c.1407+92G>A MANE Select NP_000102.1:n.1407+92G>A
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