Canonical Allele Identifier: CA9863330

Gene: CHD6

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.41512842A>G , CM000682.2:g.41512842A>G	GRCh38
NC_000020.10:g.40141481A>G , CM000682.1:g.40141481A>G	GRCh37
NC_000020.9:g.39574895A>G	NCBI36
NG_050686.1:g.110653T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_032221.5:c.852+4T>C MANE Select	NP_115597.3:n.852+4T>C
ENST00000373233.8:c.852+4T>C MANE Select	ENSP00000362330.3:n.852+4T>C
NM_032221.4:c.852+4T>C	NP_115597.3:n.852+4T>C
ENST00000373222.3:c.957+4T>C	ENSP00000362319.3:n.957+4T>C
ENST00000373233.7:c.852+4T>C	ENSP00000362330.3:n.852+4T>C
ENST00000470470.1:n.534+4T>C
XM_005260573.1:c.786+4T>C	XP_005260630.1:n.786+4T>C
XM_005260573.2:c.786+4T>C	XP_005260630.1:n.786+4T>C
XM_005260574.2:c.852+4T>C	XP_005260631.1:n.852+4T>C
XM_005260575.2:c.852+4T>C	XP_005260632.1:n.852+4T>C
XM_006723883.2:c.852+4T>C	XP_006723946.1:n.852+4T>C
XM_011529080.1:c.846+4T>C	XP_011527382.1:n.846+4T>C
XM_011529080.2:c.846+4T>C	XP_011527382.1:n.846+4T>C
XM_011529081.1:c.852+4T>C	XP_011527383.1:n.852+4T>C
XM_017028099.2:c.855+4T>C	XP_016883588.1:n.855+4T>C
XM_017028100.1:c.786+4T>C	XP_016883589.1:n.786+4T>C
XM_017028101.1:c.855+4T>C	XP_016883590.1:n.855+4T>C
XM_017028102.1:c.855+4T>C	XP_016883591.1:n.855+4T>C
XM_017028103.1:c.-151+4T>C	XP_016883592.1:n.-151+4T>C
XM_017028104.1:c.855+4T>C	XP_016883593.1:n.855+4T>C
XR_001754421.2:n.2520+4T>C