Canonical Allele Identifier: CA2578989008

Gene: SLC26A4

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107694526C>A , CM000669.2:g.107694526C>A	GRCh38
NC_000007.13:g.107334971C>A , CM000669.1:g.107334971C>A	GRCh37
NC_000007.12:g.107122207C>A	NCBI36
NG_008489.1:g.38892C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644269.2:c.1341+46C>A MANE Select	ENSP00000494017.1:n.1341+46C>A
ENST00000644846.1:c.52+46C>A
ENST00000265715.7:c.1341+46C>A	ENSP00000265715.3:n.1341+46C>A
ENST00000460748.1:n.444+46C>A
ENST00000477350.5:n.189-95C>A
ENST00000480841.5:n.190+46C>A
ENST00000497446.5:n.356+46C>A
NM_000441.1:c.1341+46C>A	NP_000432.1:n.1341+46C>A
XM_005250425.1:c.1341+46C>A	XP_005250482.1:n.1341+46C>A
XM_005250425.2:c.1341+46C>A	XP_005250482.1:n.1341+46C>A
XM_017012318.1:c.1264-95C>A	XP_016867807.1:n.1264-95C>A
NM_000441.2:c.1341+46C>A MANE Select	NP_000432.1:n.1341+46C>A