Canonical Allele Identifier: CA144093
Community Standard Title: NM_000111.3(SLC26A3):c.358G>A (p.Gly120Ser)
Gene: SLC26A3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107791854C>T , CM000669.2:g.107791854C>T GRCh38
NC_000007.13:g.107432299C>T , CM000669.1:g.107432299C>T GRCh37
NC_000007.12:g.107219535C>T NCBI36
NG_008046.1:g.16380G>A , LRG_683:g.16380G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000111.3:c.358G>A MANE Select NP_000102.1:p.Gly120Ser
ENST00000340010.10:c.358G>A MANE Select ENSP00000345873.5:p.Gly120Ser
NM_000111.2:c.358G>A , LRG_683t1:c.358G>A NP_000102.1:p.Gly120Ser
ENST00000340010.9:c.358G>A ENSP00000345873.5:p.Gly120Ser
ENST00000379083.7:c.*149G>A ENSP00000368375.3:n.*149G>A
ENST00000453332.1:c.358G>A ENSP00000395955.1:p.Gly120Ser
XM_011515867.1:c.358G>A XP_011514169.1:p.Gly120Ser
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