Canonical Allele Identifier: CA368851429
Gene: SLC26A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107779717A>G , CM000669.2:g.107779717A>G GRCh38
NC_000007.13:g.107420162A>G , CM000669.1:g.107420162A>G GRCh37
NC_000007.12:g.107207398A>G NCBI36
NG_008046.1:g.28517T>C , LRG_683:g.28517T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000340010.10:c.1358T>C MANE Select ENSP00000345873.5:p.Met453Thr
ENST00000340010.9:c.1358T>C ENSP00000345873.5:p.Met453Thr
ENST00000379083.7:c.*1149T>C ENSP00000368375.3:n.*1149T>C
NM_000111.2:c.1358T>C , LRG_683t1:c.1358T>C NP_000102.1:p.Met453Thr
XM_011515867.1:c.1358T>C XP_011514169.1:p.Met453Thr
NM_000111.3:c.1358T>C MANE Select NP_000102.1:p.Met453Thr