Canonical Allele Identifier: CA1732753115
Gene: SLC26A4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107695981C= , CM000669.2:g.107695981C= GRCh38
NC_000007.13:g.107336426C= , CM000669.1:g.107336426C= GRCh37
NC_000007.12:g.107123662C= NCBI36
NG_008489.1:g.40347C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.1486C= MANE Select ENSP00000494017.1:p.Leu496=
ENST00000644846.1:c.197C=
ENST00000265715.7:c.1486C= ENSP00000265715.3:p.Leu496=
ENST00000477350.5:n.333C=
ENST00000480841.5:n.335C=
ENST00000497446.5:n.501C=
NM_000441.1:c.1486C= NP_000432.1:p.Leu496=
XM_005250425.1:c.1486C= XP_005250482.1:p.Leu496=
XM_005250425.2:c.1486C= XP_005250482.1:p.Leu496=
XM_017012318.1:c.1408C= XP_016867807.1:p.Leu470=
NM_000441.2:c.1486C= MANE Select NP_000432.1:p.Leu496=