Canonical Allele Identifier: CA4432685
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1685126
dbSNP Id: rs148425972

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107689175A>G , CM000669.2:g.107689175A>G GRCh38
NC_000007.13:g.107329620A>G , CM000669.1:g.107329620A>G GRCh37
NC_000007.12:g.107116856A>G NCBI36
NG_008489.1:g.33541A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.1124A>G MANE Select ENSP00000494017.1:p.Tyr375Cys
ENST00000265715.7:c.1124A>G ENSP00000265715.3:p.Tyr375Cys
NM_000441.1:c.1124A>G NP_000432.1:p.Tyr375Cys
XM_005250425.1:c.1124A>G XP_005250482.1:p.Tyr375Cys
XM_006716025.2:c.1124A>G XP_006716088.1:p.Tyr375Cys
XM_005250425.2:c.1124A>G XP_005250482.1:p.Tyr375Cys
XM_006716025.3:c.1124A>G XP_006716088.1:p.Tyr375Cys
XM_017012318.1:c.1124A>G XP_016867807.1:p.Tyr375Cys
NM_000441.2:c.1124A>G MANE Select NP_000432.1:p.Tyr375Cys