Canonical Allele Identifier: CA1732787566
Gene: SLC26A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107779721G= , CM000669.2:g.107779721G= GRCh38
NC_000007.13:g.107420166G= , CM000669.1:g.107420166G= GRCh37
NC_000007.12:g.107207402G= NCBI36
NG_008046.1:g.28513C= , LRG_683:g.28513C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000340010.10:c.1354C= MANE Select ENSP00000345873.5:p.Leu452=
ENST00000340010.9:c.1354C= ENSP00000345873.5:p.Leu452=
ENST00000379083.7:c.*1145C= ENSP00000368375.3:n.*1145C=
NM_000111.2:c.1354C= , LRG_683t1:c.1354C= NP_000102.1:p.Leu452=
XM_011515867.1:c.1354C= XP_011514169.1:p.Leu452=
NM_000111.3:c.1354C= MANE Select NP_000102.1:p.Leu452=