Canonical Allele Identifier: CA2777355574
Gene: SLC26A4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107700982T>C , CM000669.2:g.107700982T>C GRCh38
NC_000007.13:g.107341427T>C , CM000669.1:g.107341427T>C GRCh37
NC_000007.12:g.107128663T>C NCBI36
NG_008489.1:g.45348T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.1708-119T>C MANE Select ENSP00000494017.1:n.1708-119T>C
ENST00000644846.1:c.419-119T>C
ENST00000265715.7:c.1708-119T>C ENSP00000265715.3:n.1708-119T>C
ENST00000480841.5:n.557-119T>C
ENST00000492030.2:n.90+807T>C
NM_000441.1:c.1708-119T>C NP_000432.1:n.1708-119T>C
XM_005250425.1:c.1708-119T>C XP_005250482.1:n.1708-119T>C
XM_005250425.2:c.1708-119T>C XP_005250482.1:n.1708-119T>C
XM_017012318.1:c.1630-119T>C XP_016867807.1:n.1630-119T>C
NM_000441.2:c.1708-119T>C MANE Select NP_000432.1:n.1708-119T>C