Canonical Allele Identifier: CA2684468657
Community Standard Title: NM_000441.2(SLC26A4):c.1708-113C>A
Gene: SLC26A4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107700988C>A , CM000669.2:g.107700988C>A GRCh38
NC_000007.13:g.107341433C>A , CM000669.1:g.107341433C>A GRCh37
NC_000007.12:g.107128669C>A NCBI36
NG_008489.1:g.45354C>A

Transcript Alleles

HGVS Amino-acid Change
NM_000441.2:c.1708-113C>A MANE Select NP_000432.1:n.1708-113C>A
ENST00000644269.2:c.1708-113C>A MANE Select ENSP00000494017.1:n.1708-113C>A
NM_000441.1:c.1708-113C>A NP_000432.1:n.1708-113C>A
ENST00000265715.7:c.1708-113C>A ENSP00000265715.3:n.1708-113C>A
ENST00000480841.5:n.557-113C>A
ENST00000492030.2:n.90+813C>A
ENST00000644846.1:c.419-113C>A
XM_005250425.1:c.1708-113C>A XP_005250482.1:n.1708-113C>A
XM_005250425.2:c.1708-113C>A XP_005250482.1:n.1708-113C>A
XM_017012318.1:c.1630-113C>A XP_016867807.1:n.1630-113C>A
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