Canonical Allele Identifier: CA368841309
Gene: SLC26A4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107695999C>A , CM000669.2:g.107695999C>A GRCh38
NC_000007.13:g.107336444C>A , CM000669.1:g.107336444C>A GRCh37
NC_000007.12:g.107123680C>A NCBI36
NG_008489.1:g.40365C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.1504C>A MANE Select ENSP00000494017.1:p.Leu502Ile
ENST00000644846.1:c.215C>A
ENST00000265715.7:c.1504C>A ENSP00000265715.3:p.Leu502Ile
ENST00000477350.5:n.351C>A
ENST00000480841.5:n.353C>A
ENST00000497446.5:n.519C>A
NM_000441.1:c.1504C>A NP_000432.1:p.Leu502Ile
XM_005250425.1:c.1504C>A XP_005250482.1:p.Leu502Ile
XM_005250425.2:c.1504C>A XP_005250482.1:p.Leu502Ile
XM_017012318.1:c.1426C>A XP_016867807.1:p.Leu476Ile
NM_000441.2:c.1504C>A MANE Select NP_000432.1:p.Leu502Ile