Canonical Allele Identifier: CA2578988972

Gene: SLC26A4

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107694355A>T , CM000669.2:g.107694355A>T	GRCh38
NC_000007.13:g.107334800A>T , CM000669.1:g.107334800A>T	GRCh37
NC_000007.12:g.107122036A>T	NCBI36
NG_008489.1:g.38721A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000644269.2:c.1264-48A>T MANE Select	ENSP00000494017.1:n.1264-48A>T
ENST00000265715.7:c.1264-48A>T	ENSP00000265715.3:n.1264-48A>T
ENST00000460748.1:n.367-48A>T
ENST00000477350.5:n.189-266A>T
ENST00000480841.5:n.113-48A>T
ENST00000497446.5:n.279-48A>T
NM_000441.1:c.1264-48A>T	NP_000432.1:n.1264-48A>T
XM_005250425.1:c.1264-48A>T	XP_005250482.1:n.1264-48A>T
XM_006716025.2:c.*795A>T	XP_006716088.1:n.*795A>T
XM_005250425.2:c.1264-48A>T	XP_005250482.1:n.1264-48A>T
XM_006716025.3:c.*795A>T	XP_006716088.1:n.*795A>T
XM_017012318.1:c.1264-266A>T	XP_016867807.1:n.1264-266A>T
NM_000441.2:c.1264-48A>T MANE Select	NP_000432.1:n.1264-48A>T