Canonical Allele Identifier: CA1105625816
Gene: SLC26A3 HGNC NCBI

Linked Data

dbSNP Id: rs1033041654
gnomAD v3: 7-107779590-T-A
gnomAD v4: 7-107779590-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107779590T>A , CM000669.2:g.107779590T>A GRCh38
NC_000007.13:g.107420035T>A , CM000669.1:g.107420035T>A GRCh37
NC_000007.12:g.107207271T>A NCBI36
NG_008046.1:g.28644A>T , LRG_683:g.28644A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000340010.10:c.1407+78A>T MANE Select ENSP00000345873.5:n.1407+78A>T
ENST00000340010.9:c.1407+78A>T ENSP00000345873.5:n.1407+78A>T
ENST00000379083.7:c.*1198+78A>T ENSP00000368375.3:n.*1198+78A>T
NM_000111.2:c.1407+78A>T , LRG_683t1:c.1407+78A>T NP_000102.1:n.1407+78A>T
XM_011515867.1:c.1407+78A>T XP_011514169.1:n.1407+78A>T
NM_000111.3:c.1407+78A>T MANE Select NP_000102.1:n.1407+78A>T
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