Canonical Allele Identifier: CA344308522

Gene: CHIT1

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.203217835C>G , CM000663.2:g.203217835C>G	GRCh38
NC_000001.10:g.203186963C>G , CM000663.1:g.203186963C>G	GRCh37
NC_000001.9:g.201453586C>G	NCBI36
NG_012867.1:g.16898G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367229.6:c.1060G>C MANE Select	ENSP00000356198.1:p.Gly354Arg
ENST00000255427.7:c.1003G>C	ENSP00000255427.3:p.Gly335Arg
ENST00000367229.5:c.1060G>C	ENSP00000356198.1:p.Gly354Arg
ENST00000479483.1:n.187G>C
ENST00000484834.5:n.5292G>C
ENST00000491855.5:c.1060G>C	ENSP00000423778.1:p.Gly354Arg
ENST00000503786.1:c.*131G>C	ENSP00000421617.1:n.*131G>C
NM_001256125.1:c.1003G>C	NP_001243054.2:p.Gly335Arg
NM_001270509.1:c.982-57G>C	NP_001257438.1:n.982-57G>C
NM_003465.2:c.1060G>C	NP_003456.1:p.Gly354Arg
NR_045784.1:n.1313G>C
NR_045785.1:n.1156G>C
XM_011509109.1:c.1105G>C	XP_011507411.1:p.Gly369Arg
XM_011509110.1:c.1105G>C	XP_011507412.1:p.Gly369Arg
XR_921732.1:n.1262G>C
NM_003465.3:c.1060G>C MANE Select	NP_003456.1:p.Gly354Arg
NM_001256125.2:c.1003G>C	NP_001243054.2:p.Gly335Arg
NR_045784.2:n.1254G>C
NR_045785.2:n.1097G>C