Canonical Allele Identifier: CA2578989122
Gene: SLC26A4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107710285G>A , CM000669.2:g.107710285G>A GRCh38
NC_000007.13:g.107350730G>A , CM000669.1:g.107350730G>A GRCh37
NC_000007.12:g.107137966G>A NCBI36
NG_008489.1:g.54651G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.2235+86G>A MANE Select ENSP00000494017.1:n.2235+86G>A
ENST00000644846.1:c.891+86G>A
ENST00000265715.7:c.2235+86G>A ENSP00000265715.3:n.2235+86G>A
ENST00000492030.2:n.421+86G>A
NM_000441.1:c.2235+86G>A NP_000432.1:n.2235+86G>A
XM_005250425.1:c.2235+86G>A XP_005250482.1:n.2235+86G>A
XM_005250425.2:c.2235+86G>A XP_005250482.1:n.2235+86G>A
XM_017012318.1:c.2157+86G>A XP_016867807.1:n.2157+86G>A
NM_000441.2:c.2235+86G>A MANE Select NP_000432.1:n.2235+86G>A