Canonical Allele Identifier: CA344313931

Gene: CHIT1

Linked Data

• gnomAD v4: 1-203225674-C-G
• MyVariant Identifiers: chr1:g.203194802C>G (hg19) ; chr1:g.203225674C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.203225674C>G , CM000663.2:g.203225674C>G	GRCh38
NC_000001.10:g.203194802C>G , CM000663.1:g.203194802C>G	GRCh37
NC_000001.9:g.201461425C>G	NCBI36
NG_012867.1:g.9059G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367229.6:c.252G>C MANE Select	ENSP00000356198.1:p.Lys84Asn
ENST00000255427.7:c.252G>C	ENSP00000255427.3:p.Lys84Asn
ENST00000367229.5:c.252G>C	ENSP00000356198.1:p.Lys84Asn
ENST00000484834.5:n.4609G>C
ENST00000491855.5:c.252G>C	ENSP00000423778.1:p.Lys84Asn
ENST00000503786.1:c.252G>C	ENSP00000421617.1:p.Lys84Asn
ENST00000513472.5:n.448G>C
NM_001256125.1:c.252G>C	NP_001243054.2:p.Lys84Asn
NM_001270509.1:c.252G>C	NP_001257438.1:p.Lys84Asn
NM_003465.2:c.252G>C	NP_003456.1:p.Lys84Asn
NR_045784.1:n.348G>C
NR_045785.1:n.348G>C
XM_011509109.1:c.297G>C	XP_011507411.1:p.Lys99Asn
XM_011509110.1:c.297G>C	XP_011507412.1:p.Lys99Asn
XR_921732.1:n.297G>C
NM_003465.3:c.252G>C MANE Select	NP_003456.1:p.Lys84Asn
NM_001256125.2:c.252G>C	NP_001243054.2:p.Lys84Asn
NR_045784.2:n.289G>C
NR_045785.2:n.289G>C