Canonical Allele Identifier: CA1339746

Gene: CHIT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.203219257G>C , CM000663.2:g.203219257G>C	GRCh38
NC_000001.10:g.203188385G>C , CM000663.1:g.203188385G>C	GRCh37
NC_000001.9:g.201455008G>C	NCBI36
NG_012867.1:g.15476C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_003465.3:c.988C>G MANE Select	NP_003456.1:p.Gln330Glu
ENST00000367229.6:c.988C>G MANE Select	ENSP00000356198.1:p.Gln330Glu
NM_001256125.1:c.931C>G	NP_001243054.2:p.Gln311Glu
NM_001256125.2:c.931C>G	NP_001243054.2:p.Gln311Glu
NM_001270509.1:c.940C>G	NP_001257438.1:p.Gln314Glu
NM_003465.2:c.988C>G	NP_003456.1:p.Gln330Glu
NR_045784.1:n.1084C>G
NR_045784.2:n.1025C>G
NR_045785.1:n.1084C>G
NR_045785.2:n.1025C>G
ENST00000255427.7:c.931C>G	ENSP00000255427.3:p.Gln311Glu
ENST00000367229.5:c.988C>G	ENSP00000356198.1:p.Gln330Glu
ENST00000484834.5:n.5220C>G
ENST00000491855.5:c.988C>G	ENSP00000423778.1:p.Gln330Glu
ENST00000503786.1:c.988C>G	ENSP00000421617.1:p.Gln330Glu
XM_011509109.1:c.1033C>G	XP_011507411.1:p.Gln345Glu
XM_011509110.1:c.1033C>G	XP_011507412.1:p.Gln345Glu
XR_921732.1:n.1033C>G