Canonical Allele Identifier: CA368841288
Gene: SLC26A4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107695988T>C , CM000669.2:g.107695988T>C GRCh38
NC_000007.13:g.107336433T>C , CM000669.1:g.107336433T>C GRCh37
NC_000007.12:g.107123669T>C NCBI36
NG_008489.1:g.40354T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.1493T>C MANE Select ENSP00000494017.1:p.Leu498Ser
ENST00000644846.1:c.204T>C
ENST00000265715.7:c.1493T>C ENSP00000265715.3:p.Leu498Ser
ENST00000477350.5:n.340T>C
ENST00000480841.5:n.342T>C
ENST00000497446.5:n.508T>C
NM_000441.1:c.1493T>C NP_000432.1:p.Leu498Ser
XM_005250425.1:c.1493T>C XP_005250482.1:p.Leu498Ser
XM_005250425.2:c.1493T>C XP_005250482.1:p.Leu498Ser
XM_017012318.1:c.1415T>C XP_016867807.1:p.Leu472Ser
NM_000441.2:c.1493T>C MANE Select NP_000432.1:p.Leu498Ser