Canonical Allele Identifier: CA344313996

Gene: CHIT1

Linked Data

• MyVariant Identifiers: chr1:g.203194819C>A (hg19) ; chr1:g.203225691C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367229.6:c.235G>T MANE Select	ENSP00000356198.1:p.Glu79Ter
ENST00000255427.7:c.235G>T	ENSP00000255427.3:p.Glu79Ter
ENST00000367229.5:c.235G>T	ENSP00000356198.1:p.Glu79Ter
ENST00000484834.5:n.4592G>T
ENST00000491855.5:c.235G>T	ENSP00000423778.1:p.Glu79Ter
ENST00000503786.1:c.235G>T	ENSP00000421617.1:p.Glu79Ter
ENST00000513472.5:n.431G>T
NM_001256125.1:c.235G>T	NP_001243054.2:p.Glu79Ter
NM_001270509.1:c.235G>T	NP_001257438.1:p.Glu79Ter
NM_003465.2:c.235G>T	NP_003456.1:p.Glu79Ter
NR_045784.1:n.331G>T
NR_045785.1:n.331G>T
XM_011509109.1:c.280G>T	XP_011507411.1:p.Glu94Ter
XM_011509110.1:c.280G>T	XP_011507412.1:p.Glu94Ter
XR_921732.1:n.280G>T
NM_003465.3:c.235G>T MANE Select	NP_003456.1:p.Glu79Ter
NM_001256125.2:c.235G>T	NP_001243054.2:p.Glu79Ter
NR_045784.2:n.272G>T
NR_045785.2:n.272G>T