Canonical Allele Identifier: CA2578989111
Gene: SLC26A4 HGNC NCBI

Linked Data

gnomAD v4: 7-107710246-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107710246G>A , CM000669.2:g.107710246G>A GRCh38
NC_000007.13:g.107350691G>A , CM000669.1:g.107350691G>A GRCh37
NC_000007.12:g.107137927G>A NCBI36
NG_008489.1:g.54612G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.2235+47G>A MANE Select ENSP00000494017.1:n.2235+47G>A
ENST00000644846.1:c.891+47G>A
ENST00000265715.7:c.2235+47G>A ENSP00000265715.3:n.2235+47G>A
ENST00000492030.2:n.421+47G>A
NM_000441.1:c.2235+47G>A NP_000432.1:n.2235+47G>A
XM_005250425.1:c.2235+47G>A XP_005250482.1:n.2235+47G>A
XM_005250425.2:c.2235+47G>A XP_005250482.1:n.2235+47G>A
XM_017012318.1:c.2157+47G>A XP_016867807.1:n.2157+47G>A
NM_000441.2:c.2235+47G>A MANE Select NP_000432.1:n.2235+47G>A
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