Canonical Allele Identifier: CA368853131
Community Standard Title: NM_000111.3(SLC26A3):c.711C>A (p.His237Gln)
Gene: SLC26A3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107789548G>T , CM000669.2:g.107789548G>T GRCh38
NC_000007.13:g.107429993G>T , CM000669.1:g.107429993G>T GRCh37
NC_000007.12:g.107217229G>T NCBI36
NG_008046.1:g.18686C>A , LRG_683:g.18686C>A

Transcript Alleles

HGVS Amino-acid Change
NM_000111.3:c.711C>A MANE Select NP_000102.1:p.His237Gln
ENST00000340010.10:c.711C>A MANE Select ENSP00000345873.5:p.His237Gln
NM_000111.2:c.711C>A , LRG_683t1:c.711C>A NP_000102.1:p.His237Gln
ENST00000340010.9:c.711C>A ENSP00000345873.5:p.His237Gln
ENST00000379083.7:c.*502C>A ENSP00000368375.3:n.*502C>A
XM_011515867.1:c.711C>A XP_011514169.1:p.His237Gln
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