Canonical Allele Identifier: CA368851458
Gene: SLC26A3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.107420174T>G (hg19) chr7:g.107779729T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107779729T>G , CM000669.2:g.107779729T>G GRCh38
NC_000007.13:g.107420174T>G , CM000669.1:g.107420174T>G GRCh37
NC_000007.12:g.107207410T>G NCBI36
NG_008046.1:g.28505A>C , LRG_683:g.28505A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000340010.10:c.1346A>C MANE Select ENSP00000345873.5:p.Lys449Thr
ENST00000340010.9:c.1346A>C ENSP00000345873.5:p.Lys449Thr
ENST00000379083.7:c.*1137A>C ENSP00000368375.3:n.*1137A>C
NM_000111.2:c.1346A>C , LRG_683t1:c.1346A>C NP_000102.1:p.Lys449Thr
XM_011515867.1:c.1346A>C XP_011514169.1:p.Lys449Thr
NM_000111.3:c.1346A>C MANE Select NP_000102.1:p.Lys449Thr
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