Canonical Allele Identifier: CA1732787367
Gene: SLC26A3 HGNC NCBI

Linked Data

dbSNP Id: rs1794182529
gnomAD v4: 7-107779573-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107779573T>G , CM000669.2:g.107779573T>G GRCh38
NC_000007.13:g.107420018T>G , CM000669.1:g.107420018T>G GRCh37
NC_000007.12:g.107207254T>G NCBI36
NG_008046.1:g.28661A>C , LRG_683:g.28661A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000340010.10:c.1407+95A>C MANE Select ENSP00000345873.5:n.1407+95A>C
ENST00000340010.9:c.1407+95A>C ENSP00000345873.5:n.1407+95A>C
ENST00000379083.7:c.*1198+95A>C ENSP00000368375.3:n.*1198+95A>C
NM_000111.2:c.1407+95A>C , LRG_683t1:c.1407+95A>C NP_000102.1:n.1407+95A>C
XM_011515867.1:c.1407+95A>C XP_011514169.1:n.1407+95A>C
NM_000111.3:c.1407+95A>C MANE Select NP_000102.1:n.1407+95A>C
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