Canonical Allele Identifier: CA368841211
Gene: SLC26A4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107695948A>T , CM000669.2:g.107695948A>T GRCh38
NC_000007.13:g.107336393A>T , CM000669.1:g.107336393A>T GRCh37
NC_000007.12:g.107123629A>T NCBI36
NG_008489.1:g.40314A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000644269.2:c.1453A>T MANE Select ENSP00000494017.1:p.Thr485Ser
ENST00000644846.1:c.164A>T
ENST00000265715.7:c.1453A>T ENSP00000265715.3:p.Thr485Ser
ENST00000460748.1:n.556A>T
ENST00000477350.5:n.300A>T
ENST00000480841.5:n.302A>T
ENST00000497446.5:n.468A>T
NM_000441.1:c.1453A>T NP_000432.1:p.Thr485Ser
XM_005250425.1:c.1453A>T XP_005250482.1:p.Thr485Ser
XM_005250425.2:c.1453A>T XP_005250482.1:p.Thr485Ser
XM_017012318.1:c.1375A>T XP_016867807.1:p.Thr459Ser
NM_000441.2:c.1453A>T MANE Select NP_000432.1:p.Thr485Ser