Canonical Allele Identifier: CA2673948

Gene: DHX36

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.154295301T>C , CM000665.2:g.154295301T>C	GRCh38
NC_000003.11:g.154013090T>C , CM000665.1:g.154013090T>C	GRCh37
NC_000003.10:g.155495784T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_020865.3:c.1588A>G MANE Select	NP_065916.2:p.Thr530Ala
ENST00000496811.6:c.1588A>G MANE Select	ENSP00000417078.1:p.Thr530Ala
NM_001114397.1:c.1550-4A>G	NP_001107869.1:n.1550-4A>G
NM_001114397.2:c.1550-4A>G	NP_001107869.1:n.1550-4A>G
NM_020865.2:c.1588A>G	NP_065916.2:p.Thr530Ala
ENST00000308361.10:c.1588A>G	ENSP00000309296.6:p.Thr530Ala
ENST00000329463.9:c.1550-4A>G	ENSP00000330113.5:n.1550-4A>G
ENST00000469977.1:c.27A>G
ENST00000481941.5:c.1330A>G	ENSP00000419862.1:p.Thr444Ala
ENST00000496811.5:c.1588A>G	ENSP00000417078.1:p.Thr530Ala
XR_002959501.1:n.1634A>G