Canonical Allele Identifier: CA368839256
Gene: SLC26A4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107690194T>A , CM000669.2:g.107690194T>A GRCh38
NC_000007.13:g.107330639T>A , CM000669.1:g.107330639T>A GRCh37
NC_000007.12:g.107117875T>A NCBI36
NG_008489.1:g.34560T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.1220T>A MANE Select ENSP00000494017.1:p.Leu407His
ENST00000265715.7:c.1220T>A ENSP00000265715.3:p.Leu407His
NM_000441.1:c.1220T>A NP_000432.1:p.Leu407His
XM_005250425.1:c.1220T>A XP_005250482.1:p.Leu407His
XM_006716025.2:c.1220T>A XP_006716088.1:p.Leu407His
XM_005250425.2:c.1220T>A XP_005250482.1:p.Leu407His
XM_006716025.3:c.1220T>A XP_006716088.1:p.Leu407His
XM_017012318.1:c.1220T>A XP_016867807.1:p.Leu407His
NM_000441.2:c.1220T>A MANE Select NP_000432.1:p.Leu407His