Canonical Allele Identifier: CA2578988752
Gene: SLC26A4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107683637C>A , CM000669.2:g.107683637C>A GRCh38
NC_000007.13:g.107324082C>A , CM000669.1:g.107324082C>A GRCh37
NC_000007.12:g.107111318C>A NCBI36
NG_008489.1:g.28003C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.1001+100C>A MANE Select ENSP00000494017.1:n.1001+100C>A
ENST00000265715.7:c.1001+100C>A ENSP00000265715.3:n.1001+100C>A
NM_000441.1:c.1001+100C>A NP_000432.1:n.1001+100C>A
XM_005250425.1:c.1001+100C>A XP_005250482.1:n.1001+100C>A
XM_006716025.2:c.1001+100C>A XP_006716088.1:n.1001+100C>A
XM_005250425.2:c.1001+100C>A XP_005250482.1:n.1001+100C>A
XM_006716025.3:c.1001+100C>A XP_006716088.1:n.1001+100C>A
XM_017012318.1:c.1001+100C>A XP_016867807.1:n.1001+100C>A
NM_000441.2:c.1001+100C>A MANE Select NP_000432.1:n.1001+100C>A