Canonical Allele Identifier: CA1732759180
Gene: SLC26A4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107701893C= , CM000669.2:g.107701893C= GRCh38
NC_000007.13:g.107342338C= , CM000669.1:g.107342338C= GRCh37
NC_000007.12:g.107129574C= NCBI36
NG_008489.1:g.46259C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.1870C= MANE Select ENSP00000494017.1:p.Leu624=
ENST00000644846.1:c.581C=
ENST00000265715.7:c.1870C= ENSP00000265715.3:p.Leu624=
ENST00000492030.2:n.157C=
NM_000441.1:c.1870C= NP_000432.1:p.Leu624=
XM_005250425.1:c.1870C= XP_005250482.1:p.Leu624=
XM_005250425.2:c.1870C= XP_005250482.1:p.Leu624=
XM_017012318.1:c.1792C= XP_016867807.1:p.Leu598=
NM_000441.2:c.1870C= MANE Select NP_000432.1:p.Leu624=