Canonical Allele Identifier: CA1732735862
Community Standard Title: NM_000441.2(SLC26A4):c.170C= (p.Ser57=)
Gene: SLC26A4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107663301C= , CM000669.2:g.107663301C= GRCh38
NC_000007.13:g.107303746C= , CM000669.1:g.107303746C= GRCh37
NC_000007.12:g.107090982C= NCBI36
NG_008489.1:g.7667C=

Transcript Alleles

HGVS Amino-acid Change
NM_000441.2:c.170C= MANE Select NP_000432.1:p.Ser57=
ENST00000644269.2:c.170C= MANE Select ENSP00000494017.1:p.Ser57=
NM_000441.1:c.170C= NP_000432.1:p.Ser57=
ENST00000265715.7:c.170C= ENSP00000265715.3:p.Ser57=
ENST00000440056.1:c.170C= ENSP00000394760.1:p.Ser57=
XM_005250425.1:c.170C= XP_005250482.1:p.Ser57=
XM_005250425.2:c.170C= XP_005250482.1:p.Ser57=
XM_006716025.2:c.170C= XP_006716088.1:p.Ser57=
XM_006716025.3:c.170C= XP_006716088.1:p.Ser57=
XM_017012318.1:c.170C= XP_016867807.1:p.Ser57=