Canonical Allele Identifier: CA1141581519

Gene: CHIT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.203225706C= , CM000663.2:g.203225706C=	GRCh38
NC_000001.10:g.203194834C= , CM000663.1:g.203194834C=	GRCh37
NC_000001.9:g.201461457C=	NCBI36
NG_012867.1:g.9027G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367229.6:c.220G= MANE Select	ENSP00000356198.1:p.Glu74=
ENST00000255427.7:c.220G=	ENSP00000255427.3:p.Glu74=
ENST00000367229.5:c.220G=	ENSP00000356198.1:p.Glu74=
ENST00000484834.5:n.4577G=
ENST00000491855.5:c.220G=	ENSP00000423778.1:p.Glu74=
ENST00000503786.1:c.220G=	ENSP00000421617.1:p.Glu74=
ENST00000513472.5:n.416G=
NM_001256125.1:c.220G=	NP_001243054.2:p.Glu74=
NM_001270509.1:c.220G=	NP_001257438.1:p.Glu74=
NM_003465.2:c.220G=	NP_003456.1:p.Glu74=
NR_045784.1:n.316G=
NR_045785.1:n.316G=
XM_011509109.1:c.265G=	XP_011507411.1:p.Glu89=
XM_011509110.1:c.265G=	XP_011507412.1:p.Glu89=
XR_921732.1:n.265G=
NM_003465.3:c.220G= MANE Select	NP_003456.1:p.Glu74=
NM_001256125.2:c.220G=	NP_001243054.2:p.Glu74=
NR_045784.2:n.257G=
NR_045785.2:n.257G=