Canonical Allele Identifier: CA344314013

Gene: CHIT1

Linked Data

• MyVariant Identifiers: chr1:g.203194822G>A (hg19) ; chr1:g.203225694G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.203225694G>A , CM000663.2:g.203225694G>A	GRCh38
NC_000001.10:g.203194822G>A , CM000663.1:g.203194822G>A	GRCh37
NC_000001.9:g.201461445G>A	NCBI36
NG_012867.1:g.9039C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367229.6:c.232C>T MANE Select	ENSP00000356198.1:p.Gln78Ter
ENST00000255427.7:c.232C>T	ENSP00000255427.3:p.Gln78Ter
ENST00000367229.5:c.232C>T	ENSP00000356198.1:p.Gln78Ter
ENST00000484834.5:n.4589C>T
ENST00000491855.5:c.232C>T	ENSP00000423778.1:p.Gln78Ter
ENST00000503786.1:c.232C>T	ENSP00000421617.1:p.Gln78Ter
ENST00000513472.5:n.428C>T
NM_001256125.1:c.232C>T	NP_001243054.2:p.Gln78Ter
NM_001270509.1:c.232C>T	NP_001257438.1:p.Gln78Ter
NM_003465.2:c.232C>T	NP_003456.1:p.Gln78Ter
NR_045784.1:n.328C>T
NR_045785.1:n.328C>T
XM_011509109.1:c.277C>T	XP_011507411.1:p.Gln93Ter
XM_011509110.1:c.277C>T	XP_011507412.1:p.Gln93Ter
XR_921732.1:n.277C>T
NM_003465.3:c.232C>T MANE Select	NP_003456.1:p.Gln78Ter
NM_001256125.2:c.232C>T	NP_001243054.2:p.Gln78Ter
NR_045784.2:n.269C>T
NR_045785.2:n.269C>T