Canonical Allele Identifier: CA344313997

Gene: CHIT1

Linked Data

• gnomAD v4: 1-203225691-C-G
• MyVariant Identifiers: chr1:g.203194819C>G (hg19) ; chr1:g.203225691C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.203225691C>G , CM000663.2:g.203225691C>G	GRCh38
NC_000001.10:g.203194819C>G , CM000663.1:g.203194819C>G	GRCh37
NC_000001.9:g.201461442C>G	NCBI36
NG_012867.1:g.9042G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367229.6:c.235G>C MANE Select	ENSP00000356198.1:p.Glu79Gln
ENST00000255427.7:c.235G>C	ENSP00000255427.3:p.Glu79Gln
ENST00000367229.5:c.235G>C	ENSP00000356198.1:p.Glu79Gln
ENST00000484834.5:n.4592G>C
ENST00000491855.5:c.235G>C	ENSP00000423778.1:p.Glu79Gln
ENST00000503786.1:c.235G>C	ENSP00000421617.1:p.Glu79Gln
ENST00000513472.5:n.431G>C
NM_001256125.1:c.235G>C	NP_001243054.2:p.Glu79Gln
NM_001270509.1:c.235G>C	NP_001257438.1:p.Glu79Gln
NM_003465.2:c.235G>C	NP_003456.1:p.Glu79Gln
NR_045784.1:n.331G>C
NR_045785.1:n.331G>C
XM_011509109.1:c.280G>C	XP_011507411.1:p.Glu94Gln
XM_011509110.1:c.280G>C	XP_011507412.1:p.Glu94Gln
XR_921732.1:n.280G>C
NM_003465.3:c.235G>C MANE Select	NP_003456.1:p.Glu79Gln
NM_001256125.2:c.235G>C	NP_001243054.2:p.Glu79Gln
NR_045784.2:n.272G>C
NR_045785.2:n.272G>C