Canonical Allele Identifier: CA368849525
Gene: SLC26A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107767778A>T , CM000669.2:g.107767778A>T GRCh38
NC_000007.13:g.107408223A>T , CM000669.1:g.107408223A>T GRCh37
NC_000007.12:g.107195459A>T NCBI36
NG_008046.1:g.40456T>A , LRG_683:g.40456T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000340010.10:c.2193T>A MANE Select ENSP00000345873.5:p.Phe731Leu
ENST00000340010.9:c.2193T>A ENSP00000345873.5:p.Phe731Leu
ENST00000379083.7:c.*1750T>A ENSP00000368375.3:n.*1750T>A
NM_000111.2:c.2193T>A , LRG_683t1:c.2193T>A NP_000102.1:p.Phe731Leu
XM_011515867.1:c.2193T>A XP_011514169.1:p.Phe731Leu
NM_000111.3:c.2193T>A MANE Select NP_000102.1:p.Phe731Leu