Canonical Allele Identifier: CA344314039

Gene: CHIT1

Linked Data

• MyVariant Identifiers: chr1:g.203194828G>A (hg19) ; chr1:g.203225700G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.203225700G>A , CM000663.2:g.203225700G>A	GRCh38
NC_000001.10:g.203194828G>A , CM000663.1:g.203194828G>A	GRCh37
NC_000001.9:g.201461451G>A	NCBI36
NG_012867.1:g.9033C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367229.6:c.226C>T MANE Select	ENSP00000356198.1:p.Leu76Phe
ENST00000255427.7:c.226C>T	ENSP00000255427.3:p.Leu76Phe
ENST00000367229.5:c.226C>T	ENSP00000356198.1:p.Leu76Phe
ENST00000484834.5:n.4583C>T
ENST00000491855.5:c.226C>T	ENSP00000423778.1:p.Leu76Phe
ENST00000503786.1:c.226C>T	ENSP00000421617.1:p.Leu76Phe
ENST00000513472.5:n.422C>T
NM_001256125.1:c.226C>T	NP_001243054.2:p.Leu76Phe
NM_001270509.1:c.226C>T	NP_001257438.1:p.Leu76Phe
NM_003465.2:c.226C>T	NP_003456.1:p.Leu76Phe
NR_045784.1:n.322C>T
NR_045785.1:n.322C>T
XM_011509109.1:c.271C>T	XP_011507411.1:p.Leu91Phe
XM_011509110.1:c.271C>T	XP_011507412.1:p.Leu91Phe
XR_921732.1:n.271C>T
NM_003465.3:c.226C>T MANE Select	NP_003456.1:p.Leu76Phe
NM_001256125.2:c.226C>T	NP_001243054.2:p.Leu76Phe
NR_045784.2:n.263C>T
NR_045785.2:n.263C>T