Canonical Allele Identifier: CA9862684

Gene: CHD6

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.41451002G>A , CM000682.2:g.41451002G>A	GRCh38
NC_000020.10:g.40079642G>A , CM000682.1:g.40079642G>A	GRCh37
NC_000020.9:g.39513056G>A	NCBI36
NG_050686.1:g.172493C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_032221.5:c.3627C>T MANE Select	NP_115597.3:p.Pro1209=
ENST00000373233.8:c.3627C>T MANE Select	ENSP00000362330.3:p.Pro1209=
NM_032221.4:c.3627C>T	NP_115597.3:p.Pro1209=
ENST00000309279.11:c.1074C>T	ENSP00000308684.8:p.Pro358=
ENST00000373233.7:c.3627C>T	ENSP00000362330.3:p.Pro1209=
ENST00000440697.5:c.1184C>T
XM_005260573.1:c.3561C>T	XP_005260630.1:p.Pro1187=
XM_005260573.2:c.3561C>T	XP_005260630.1:p.Pro1187=
XM_005260574.2:c.3483C>T	XP_005260631.1:p.Pro1161=
XM_005260575.2:c.3627C>T	XP_005260632.1:p.Pro1209=
XM_006723883.2:c.3627C>T	XP_006723946.1:p.Pro1209=
XM_011529080.1:c.3621C>T	XP_011527382.1:p.Pro1207=
XM_011529080.2:c.3621C>T	XP_011527382.1:p.Pro1207=
XM_011529081.1:c.3627C>T	XP_011527383.1:p.Pro1209=
XM_011529082.1:c.1596C>T	XP_011527384.1:p.Pro532=
XM_011529082.2:c.1596C>T	XP_011527384.1:p.Pro532=
XM_017028099.2:c.3630C>T	XP_016883588.1:p.Pro1210=
XM_017028100.1:c.3561C>T	XP_016883589.1:p.Pro1187=
XM_017028101.1:c.3486C>T	XP_016883590.1:p.Pro1162=
XM_017028102.1:c.3630C>T	XP_016883591.1:p.Pro1210=
XM_017028103.1:c.2625C>T	XP_016883592.1:p.Pro875=
XM_017028104.1:c.3630C>T	XP_016883593.1:p.Pro1210=
XR_001754421.2:n.5295C>T