Canonical Allele Identifier: CA344313937

Gene: CHIT1

Linked Data

• MyVariant Identifiers: chr1:g.203194804T>A (hg19) ; chr1:g.203225676T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.203225676T>A , CM000663.2:g.203225676T>A	GRCh38
NC_000001.10:g.203194804T>A , CM000663.1:g.203194804T>A	GRCh37
NC_000001.9:g.201461427T>A	NCBI36
NG_012867.1:g.9057A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367229.6:c.250A>T MANE Select	ENSP00000356198.1:p.Lys84Ter
ENST00000255427.7:c.250A>T	ENSP00000255427.3:p.Lys84Ter
ENST00000367229.5:c.250A>T	ENSP00000356198.1:p.Lys84Ter
ENST00000484834.5:n.4607A>T
ENST00000491855.5:c.250A>T	ENSP00000423778.1:p.Lys84Ter
ENST00000503786.1:c.250A>T	ENSP00000421617.1:p.Lys84Ter
ENST00000513472.5:n.446A>T
NM_001256125.1:c.250A>T	NP_001243054.2:p.Lys84Ter
NM_001270509.1:c.250A>T	NP_001257438.1:p.Lys84Ter
NM_003465.2:c.250A>T	NP_003456.1:p.Lys84Ter
NR_045784.1:n.346A>T
NR_045785.1:n.346A>T
XM_011509109.1:c.295A>T	XP_011507411.1:p.Lys99Ter
XM_011509110.1:c.295A>T	XP_011507412.1:p.Lys99Ter
XR_921732.1:n.295A>T
NM_003465.3:c.250A>T MANE Select	NP_003456.1:p.Lys84Ter
NM_001256125.2:c.250A>T	NP_001243054.2:p.Lys84Ter
NR_045784.2:n.287A>T
NR_045785.2:n.287A>T