Canonical Allele Identifier: CA368846189
Gene: SLC26A4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107710198C>A , CM000669.2:g.107710198C>A GRCh38
NC_000007.13:g.107350643C>A , CM000669.1:g.107350643C>A GRCh37
NC_000007.12:g.107137879C>A NCBI36
NG_008489.1:g.54564C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.2234C>A MANE Select ENSP00000494017.1:p.Thr745Lys
ENST00000644846.1:c.890C>A
ENST00000265715.7:c.2234C>A ENSP00000265715.3:p.Thr745Lys
ENST00000492030.2:n.420C>A
NM_000441.1:c.2234C>A NP_000432.1:p.Thr745Lys
XM_005250425.1:c.2234C>A XP_005250482.1:p.Thr745Lys
XM_005250425.2:c.2234C>A XP_005250482.1:p.Thr745Lys
XM_017012318.1:c.2156C>A XP_016867807.1:p.Thr719Lys
NM_000441.2:c.2234C>A MANE Select NP_000432.1:p.Thr745Lys