Canonical Allele Identifier: CA1732751246
Gene: SLC26A4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107710094C= , CM000669.2:g.107710094C= GRCh38
NC_000007.13:g.107350539C= , CM000669.1:g.107350539C= GRCh37
NC_000007.12:g.107137775C= NCBI36
NG_008489.1:g.54460C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.2130C= MANE Select ENSP00000494017.1:p.Asp710=
ENST00000644846.1:c.786C=
ENST00000265715.7:c.2130C= ENSP00000265715.3:p.Asp710=
ENST00000492030.2:n.377-61C=
NM_000441.1:c.2130C= NP_000432.1:p.Asp710=
XM_005250425.1:c.2130C= XP_005250482.1:p.Asp710=
XM_005250425.2:c.2130C= XP_005250482.1:p.Asp710=
XM_017012318.1:c.2052C= XP_016867807.1:p.Asp684=
NM_000441.2:c.2130C= MANE Select NP_000432.1:p.Asp710=