Canonical Allele Identifier: CA344313982

Gene: CHIT1

Linked Data

• MyVariant Identifiers: chr1:g.203194815A>T (hg19) ; chr1:g.203225687A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.203225687A>T , CM000663.2:g.203225687A>T	GRCh38
NC_000001.10:g.203194815A>T , CM000663.1:g.203194815A>T	GRCh37
NC_000001.9:g.201461438A>T	NCBI36
NG_012867.1:g.9046T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367229.6:c.239T>A MANE Select	ENSP00000356198.1:p.Phe80Tyr
ENST00000255427.7:c.239T>A	ENSP00000255427.3:p.Phe80Tyr
ENST00000367229.5:c.239T>A	ENSP00000356198.1:p.Phe80Tyr
ENST00000484834.5:n.4596T>A
ENST00000491855.5:c.239T>A	ENSP00000423778.1:p.Phe80Tyr
ENST00000503786.1:c.239T>A	ENSP00000421617.1:p.Phe80Tyr
ENST00000513472.5:n.435T>A
NM_001256125.1:c.239T>A	NP_001243054.2:p.Phe80Tyr
NM_001270509.1:c.239T>A	NP_001257438.1:p.Phe80Tyr
NM_003465.2:c.239T>A	NP_003456.1:p.Phe80Tyr
NR_045784.1:n.335T>A
NR_045785.1:n.335T>A
XM_011509109.1:c.284T>A	XP_011507411.1:p.Phe95Tyr
XM_011509110.1:c.284T>A	XP_011507412.1:p.Phe95Tyr
XR_921732.1:n.284T>A
NM_003465.3:c.239T>A MANE Select	NP_003456.1:p.Phe80Tyr
NM_001256125.2:c.239T>A	NP_001243054.2:p.Phe80Tyr
NR_045784.2:n.276T>A
NR_045785.2:n.276T>A