Canonical Allele Identifier: CA368845869
Gene: SLC26A4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107710131C>T , CM000669.2:g.107710131C>T GRCh38
NC_000007.13:g.107350576C>T , CM000669.1:g.107350576C>T GRCh37
NC_000007.12:g.107137812C>T NCBI36
NG_008489.1:g.54497C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000644269.2:c.2167C>T MANE Select ENSP00000494017.1:p.His723Tyr
ENST00000644846.1:c.823C>T
ENST00000265715.7:c.2167C>T ENSP00000265715.3:p.His723Tyr
ENST00000492030.2:n.377-24C>T
NM_000441.1:c.2167C>T NP_000432.1:p.His723Tyr
XM_005250425.1:c.2167C>T XP_005250482.1:p.His723Tyr
XM_005250425.2:c.2167C>T XP_005250482.1:p.His723Tyr
XM_017012318.1:c.2089C>T XP_016867807.1:p.His697Tyr
NM_000441.2:c.2167C>T MANE Select NP_000432.1:p.His723Tyr