Canonical Allele Identifier: CA1105618548
Gene: SLC26A4 HGNC NCBI

Linked Data

dbSNP Id: rs1791721481
gnomAD v3: 7-107695784-G-A
gnomAD v4: 7-107695784-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107695784G>A , CM000669.2:g.107695784G>A GRCh38
NC_000007.13:g.107336229G>A , CM000669.1:g.107336229G>A GRCh37
NC_000007.12:g.107123465G>A NCBI36
NG_008489.1:g.40150G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000644269.2:c.1438-149G>A MANE Select ENSP00000494017.1:n.1438-149G>A
ENST00000644846.1:c.149-149G>A
ENST00000265715.7:c.1438-149G>A ENSP00000265715.3:n.1438-149G>A
ENST00000460748.1:n.541-149G>A
ENST00000477350.5:n.285-149G>A
ENST00000480841.5:n.287-149G>A
ENST00000497446.5:n.453-149G>A
NM_000441.1:c.1438-149G>A NP_000432.1:n.1438-149G>A
XM_005250425.1:c.1438-149G>A XP_005250482.1:n.1438-149G>A
XM_005250425.2:c.1438-149G>A XP_005250482.1:n.1438-149G>A
XM_017012318.1:c.1360-149G>A XP_016867807.1:n.1360-149G>A
NM_000441.2:c.1438-149G>A MANE Select NP_000432.1:n.1438-149G>A
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