Canonical Allele Identifier: CA368845814
Gene: SLC26A4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107710121T>G , CM000669.2:g.107710121T>G GRCh38
NC_000007.13:g.107350566T>G , CM000669.1:g.107350566T>G GRCh37
NC_000007.12:g.107137802T>G NCBI36
NG_008489.1:g.54487T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.2157T>G MANE Select ENSP00000494017.1:p.Phe719Leu
ENST00000644846.1:c.813T>G
ENST00000265715.7:c.2157T>G ENSP00000265715.3:p.Phe719Leu
ENST00000492030.2:n.377-34T>G
NM_000441.1:c.2157T>G NP_000432.1:p.Phe719Leu
XM_005250425.1:c.2157T>G XP_005250482.1:p.Phe719Leu
XM_005250425.2:c.2157T>G XP_005250482.1:p.Phe719Leu
XM_017012318.1:c.2079T>G XP_016867807.1:p.Phe693Leu
NM_000441.2:c.2157T>G MANE Select NP_000432.1:p.Phe719Leu