Canonical Allele Identifier: CA344313950

Gene: CHIT1

Linked Data

• gnomAD v4: 1-203225679-G-C
• MyVariant Identifiers: chr1:g.203194807G>C (hg19) ; chr1:g.203225679G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.203225679G>C , CM000663.2:g.203225679G>C	GRCh38
NC_000001.10:g.203194807G>C , CM000663.1:g.203194807G>C	GRCh37
NC_000001.9:g.201461430G>C	NCBI36
NG_012867.1:g.9054C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367229.6:c.247C>G MANE Select	ENSP00000356198.1:p.Leu83Val
ENST00000255427.7:c.247C>G	ENSP00000255427.3:p.Leu83Val
ENST00000367229.5:c.247C>G	ENSP00000356198.1:p.Leu83Val
ENST00000484834.5:n.4604C>G
ENST00000491855.5:c.247C>G	ENSP00000423778.1:p.Leu83Val
ENST00000503786.1:c.247C>G	ENSP00000421617.1:p.Leu83Val
ENST00000513472.5:n.443C>G
NM_001256125.1:c.247C>G	NP_001243054.2:p.Leu83Val
NM_001270509.1:c.247C>G	NP_001257438.1:p.Leu83Val
NM_003465.2:c.247C>G	NP_003456.1:p.Leu83Val
NR_045784.1:n.343C>G
NR_045785.1:n.343C>G
XM_011509109.1:c.292C>G	XP_011507411.1:p.Leu98Val
XM_011509110.1:c.292C>G	XP_011507412.1:p.Leu98Val
XR_921732.1:n.292C>G
NM_003465.3:c.247C>G MANE Select	NP_003456.1:p.Leu83Val
NM_001256125.2:c.247C>G	NP_001243054.2:p.Leu83Val
NR_045784.2:n.284C>G
NR_045785.2:n.284C>G