Canonical Allele Identifier: CA16043422
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 373979
dbSNP Id: rs1057518810

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107663430T>C , CM000669.2:g.107663430T>C GRCh38
NC_000007.13:g.107303875T>C , CM000669.1:g.107303875T>C GRCh37
NC_000007.12:g.107091111T>C NCBI36
NG_008489.1:g.7796T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000644269.2:c.299T>C MANE Select ENSP00000494017.1:p.Leu100Pro
ENST00000265715.7:c.299T>C ENSP00000265715.3:p.Leu100Pro
ENST00000440056.1:c.299T>C ENSP00000394760.1:p.Leu100Pro
NM_000441.1:c.299T>C NP_000432.1:p.Leu100Pro
XM_005250425.1:c.299T>C XP_005250482.1:p.Leu100Pro
XM_006716025.2:c.299T>C XP_006716088.1:p.Leu100Pro
XM_005250425.2:c.299T>C XP_005250482.1:p.Leu100Pro
XM_006716025.3:c.299T>C XP_006716088.1:p.Leu100Pro
XM_017012318.1:c.299T>C XP_016867807.1:p.Leu100Pro
NM_000441.2:c.299T>C MANE Select NP_000432.1:p.Leu100Pro