Canonical Allele Identifier: CA2578988918
Gene: SLC26A4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107701813T>C , CM000669.2:g.107701813T>C GRCh38
NC_000007.13:g.107342258T>C , CM000669.1:g.107342258T>C GRCh37
NC_000007.12:g.107129494T>C NCBI36
NG_008489.1:g.46179T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.1804-14T>C MANE Select ENSP00000494017.1:n.1804-14T>C
ENST00000644846.1:c.515-14T>C
ENST00000265715.7:c.1804-14T>C ENSP00000265715.3:n.1804-14T>C
ENST00000480841.5:n.653-14T>C
ENST00000492030.2:n.91-14T>C
NM_000441.1:c.1804-14T>C NP_000432.1:n.1804-14T>C
XM_005250425.1:c.1804-14T>C XP_005250482.1:n.1804-14T>C
XM_005250425.2:c.1804-14T>C XP_005250482.1:n.1804-14T>C
XM_017012318.1:c.1726-14T>C XP_016867807.1:n.1726-14T>C
NM_000441.2:c.1804-14T>C MANE Select NP_000432.1:n.1804-14T>C
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