Canonical Allele Identifier: CA368831979
Gene: SLC26A4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107675087A>T , CM000669.2:g.107675087A>T GRCh38
NC_000007.13:g.107315532A>T , CM000669.1:g.107315532A>T GRCh37
NC_000007.12:g.107102768A>T NCBI36
NG_008489.1:g.19453A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.743A>T MANE Select ENSP00000494017.1:p.Asn248Ile
ENST00000265715.7:c.743A>T ENSP00000265715.3:p.Asn248Ile
NM_000441.1:c.743A>T NP_000432.1:p.Asn248Ile
XM_005250425.1:c.743A>T XP_005250482.1:p.Asn248Ile
XM_006716025.2:c.743A>T XP_006716088.1:p.Asn248Ile
XM_005250425.2:c.743A>T XP_005250482.1:p.Asn248Ile
XM_006716025.3:c.743A>T XP_006716088.1:p.Asn248Ile
XM_017012318.1:c.743A>T XP_016867807.1:p.Asn248Ile
NM_000441.2:c.743A>T MANE Select NP_000432.1:p.Asn248Ile