Canonical Allele Identifier: CA2481664951
Gene: CHIT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.203225693T= , CM000663.2:g.203225693T= GRCh38
NC_000001.10:g.203194821T= , CM000663.1:g.203194821T= GRCh37
NC_000001.9:g.201461444T= NCBI36
NG_012867.1:g.9040A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000367229.6:c.233A= MANE Select ENSP00000356198.1:p.Gln78=
ENST00000255427.7:c.233A= ENSP00000255427.3:p.Gln78=
ENST00000367229.5:c.233A= ENSP00000356198.1:p.Gln78=
ENST00000484834.5:n.4590A=
ENST00000491855.5:c.233A= ENSP00000423778.1:p.Gln78=
ENST00000503786.1:c.233A= ENSP00000421617.1:p.Gln78=
ENST00000513472.5:n.429A=
NM_001256125.1:c.233A= NP_001243054.2:p.Gln78=
NM_001270509.1:c.233A= NP_001257438.1:p.Gln78=
NM_003465.2:c.233A= NP_003456.1:p.Gln78=
NR_045784.1:n.329A=
NR_045785.1:n.329A=
XM_011509109.1:c.278A= XP_011507411.1:p.Gln93=
XM_011509110.1:c.278A= XP_011507412.1:p.Gln93=
XR_921732.1:n.278A=
NM_003465.3:c.233A= MANE Select NP_003456.1:p.Gln78=
NM_001256125.2:c.233A= NP_001243054.2:p.Gln78=
NR_045784.2:n.270A=
NR_045785.2:n.270A=