Canonical Allele Identifier: CA2684474012
Gene: SLC26A3 HGNC NCBI

Linked Data

gnomAD v4: 7-107779638-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107779638T>C , CM000669.2:g.107779638T>C GRCh38
NC_000007.13:g.107420083T>C , CM000669.1:g.107420083T>C GRCh37
NC_000007.12:g.107207319T>C NCBI36
NG_008046.1:g.28596A>G , LRG_683:g.28596A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000340010.10:c.1407+30A>G MANE Select ENSP00000345873.5:n.1407+30A>G
ENST00000340010.9:c.1407+30A>G ENSP00000345873.5:n.1407+30A>G
ENST00000379083.7:c.*1198+30A>G ENSP00000368375.3:n.*1198+30A>G
NM_000111.2:c.1407+30A>G , LRG_683t1:c.1407+30A>G NP_000102.1:n.1407+30A>G
XM_011515867.1:c.1407+30A>G XP_011514169.1:n.1407+30A>G
NM_000111.3:c.1407+30A>G MANE Select NP_000102.1:n.1407+30A>G
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