Canonical Allele Identifier: CA2684468275
Gene: SLC26A4 HGNC NCBI

Linked Data

gnomAD v4: 7-107704392-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107704392A>T , CM000669.2:g.107704392A>T GRCh38
NC_000007.13:g.107344837A>T , CM000669.1:g.107344837A>T GRCh37
NC_000007.12:g.107132073A>T NCBI36
NG_008489.1:g.48758A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000644269.2:c.2089+7A>T MANE Select ENSP00000494017.1:n.2089+7A>T
ENST00000644846.1:c.745+2335A>T
ENST00000265715.7:c.2089+7A>T ENSP00000265715.3:n.2089+7A>T
ENST00000492030.2:n.376+7A>T
NM_000441.1:c.2089+7A>T NP_000432.1:n.2089+7A>T
XM_005250425.1:c.2089+7A>T XP_005250482.1:n.2089+7A>T
XM_005250425.2:c.2089+7A>T XP_005250482.1:n.2089+7A>T
XM_017012318.1:c.2011+7A>T XP_016867807.1:n.2011+7A>T
NM_000441.2:c.2089+7A>T MANE Select NP_000432.1:n.2089+7A>T
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