Canonical Allele Identifier: CA2684464064
Gene: SLC26A3 HGNC NCBI

Linked Data

gnomAD v4: 7-107767694-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107767694G>T , CM000669.2:g.107767694G>T GRCh38
NC_000007.13:g.107408139G>T , CM000669.1:g.107408139G>T GRCh37
NC_000007.12:g.107195375G>T NCBI36
NG_008046.1:g.40540C>A , LRG_683:g.40540C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000340010.10:c.2206-50C>A MANE Select ENSP00000345873.5:n.2206-50C>A
ENST00000340010.9:c.2206-50C>A ENSP00000345873.5:n.2206-50C>A
ENST00000379083.7:c.*1763-50C>A ENSP00000368375.3:n.*1763-50C>A
NM_000111.2:c.2206-50C>A , LRG_683t1:c.2206-50C>A NP_000102.1:n.2206-50C>A
XM_011515867.1:c.2206-50C>A XP_011514169.1:n.2206-50C>A
NM_000111.3:c.2206-50C>A MANE Select NP_000102.1:n.2206-50C>A
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