Canonical Allele Identifier: CA344314001

Gene: CHIT1

Linked Data

• gnomAD v4: 1-203225692-C-A
• MyVariant Identifiers: chr1:g.203194820C>A (hg19) ; chr1:g.203225692C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.203225692C>A , CM000663.2:g.203225692C>A	GRCh38
NC_000001.10:g.203194820C>A , CM000663.1:g.203194820C>A	GRCh37
NC_000001.9:g.201461443C>A	NCBI36
NG_012867.1:g.9041G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367229.6:c.234G>T MANE Select	ENSP00000356198.1:p.Gln78His
ENST00000255427.7:c.234G>T	ENSP00000255427.3:p.Gln78His
ENST00000367229.5:c.234G>T	ENSP00000356198.1:p.Gln78His
ENST00000484834.5:n.4591G>T
ENST00000491855.5:c.234G>T	ENSP00000423778.1:p.Gln78His
ENST00000503786.1:c.234G>T	ENSP00000421617.1:p.Gln78His
ENST00000513472.5:n.430G>T
NM_001256125.1:c.234G>T	NP_001243054.2:p.Gln78His
NM_001270509.1:c.234G>T	NP_001257438.1:p.Gln78His
NM_003465.2:c.234G>T	NP_003456.1:p.Gln78His
NR_045784.1:n.330G>T
NR_045785.1:n.330G>T
XM_011509109.1:c.279G>T	XP_011507411.1:p.Gln93His
XM_011509110.1:c.279G>T	XP_011507412.1:p.Gln93His
XR_921732.1:n.279G>T
NM_003465.3:c.234G>T MANE Select	NP_003456.1:p.Gln78His
NM_001256125.2:c.234G>T	NP_001243054.2:p.Gln78His
NR_045784.2:n.271G>T
NR_045785.2:n.271G>T