Canonical Allele Identifier: CA368849528
Gene: SLC26A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107767779A>T , CM000669.2:g.107767779A>T GRCh38
NC_000007.13:g.107408224A>T , CM000669.1:g.107408224A>T GRCh37
NC_000007.12:g.107195460A>T NCBI36
NG_008046.1:g.40455T>A , LRG_683:g.40455T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000340010.10:c.2192T>A MANE Select ENSP00000345873.5:p.Phe731Tyr
ENST00000340010.9:c.2192T>A ENSP00000345873.5:p.Phe731Tyr
ENST00000379083.7:c.*1749T>A ENSP00000368375.3:n.*1749T>A
NM_000111.2:c.2192T>A , LRG_683t1:c.2192T>A NP_000102.1:p.Phe731Tyr
XM_011515867.1:c.2192T>A XP_011514169.1:p.Phe731Tyr
NM_000111.3:c.2192T>A MANE Select NP_000102.1:p.Phe731Tyr