Canonical Allele Identifier: CA1732751413
Community Standard Title: NM_000441.2(SLC26A4):c.1334T= (p.Leu445=)
Gene: SLC26A4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107694473T= , CM000669.2:g.107694473T= GRCh38
NC_000007.13:g.107334918T= , CM000669.1:g.107334918T= GRCh37
NC_000007.12:g.107122154T= NCBI36
NG_008489.1:g.38839T=

Transcript Alleles

HGVS Amino-acid Change
NM_000441.2:c.1334T= MANE Select NP_000432.1:p.Leu445=
ENST00000644269.2:c.1334T= MANE Select ENSP00000494017.1:p.Leu445=
NM_000441.1:c.1334T= NP_000432.1:p.Leu445=
ENST00000265715.7:c.1334T= ENSP00000265715.3:p.Leu445=
ENST00000460748.1:n.437T=
ENST00000477350.5:n.189-148T=
ENST00000480841.5:n.183T=
ENST00000497446.5:n.349T=
ENST00000644846.1:c.45T=
XM_005250425.1:c.1334T= XP_005250482.1:p.Leu445=
XM_005250425.2:c.1334T= XP_005250482.1:p.Leu445=
XM_017012318.1:c.1264-148T= XP_016867807.1:n.1264-148T=