Canonical Allele Identifier: CA831168585
Community Standard Title: NM_000441.2(SLC26A4):c.1708-96T>G
Gene: SLC26A4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107701005T>G , CM000669.2:g.107701005T>G GRCh38
NC_000007.13:g.107341450T>G , CM000669.1:g.107341450T>G GRCh37
NC_000007.12:g.107128686T>G NCBI36
NG_008489.1:g.45371T>G

Transcript Alleles

HGVS Amino-acid Change
NM_000441.2:c.1708-96T>G MANE Select NP_000432.1:n.1708-96T>G
ENST00000644269.2:c.1708-96T>G MANE Select ENSP00000494017.1:n.1708-96T>G
NM_000441.1:c.1708-96T>G NP_000432.1:n.1708-96T>G
ENST00000265715.7:c.1708-96T>G ENSP00000265715.3:n.1708-96T>G
ENST00000480841.5:n.557-96T>G
ENST00000492030.2:n.91-822T>G
ENST00000644846.1:c.419-96T>G
XM_005250425.1:c.1708-96T>G XP_005250482.1:n.1708-96T>G
XM_005250425.2:c.1708-96T>G XP_005250482.1:n.1708-96T>G
XM_017012318.1:c.1630-96T>G XP_016867807.1:n.1630-96T>G