Canonical Allele Identifier: CA2481664945

Gene: CHIT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.203225679G= , CM000663.2:g.203225679G=	GRCh38
NC_000001.10:g.203194807G= , CM000663.1:g.203194807G=	GRCh37
NC_000001.9:g.201461430G=	NCBI36
NG_012867.1:g.9054C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367229.6:c.247C= MANE Select	ENSP00000356198.1:p.Leu83=
ENST00000255427.7:c.247C=	ENSP00000255427.3:p.Leu83=
ENST00000367229.5:c.247C=	ENSP00000356198.1:p.Leu83=
ENST00000484834.5:n.4604C=
ENST00000491855.5:c.247C=	ENSP00000423778.1:p.Leu83=
ENST00000503786.1:c.247C=	ENSP00000421617.1:p.Leu83=
ENST00000513472.5:n.443C=
NM_001256125.1:c.247C=	NP_001243054.2:p.Leu83=
NM_001270509.1:c.247C=	NP_001257438.1:p.Leu83=
NM_003465.2:c.247C=	NP_003456.1:p.Leu83=
NR_045784.1:n.343C=
NR_045785.1:n.343C=
XM_011509109.1:c.292C=	XP_011507411.1:p.Leu98=
XM_011509110.1:c.292C=	XP_011507412.1:p.Leu98=
XR_921732.1:n.292C=
NM_003465.3:c.247C= MANE Select	NP_003456.1:p.Leu83=
NM_001256125.2:c.247C=	NP_001243054.2:p.Leu83=
NR_045784.2:n.284C=
NR_045785.2:n.284C=