Canonical Allele Identifier: CA120508

Gene: CHIT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.203225058C>T , CM000663.2:g.203225058C>T	GRCh38
NC_000001.10:g.203194186C>T , CM000663.1:g.203194186C>T	GRCh37
NC_000001.9:g.201460809C>T	NCBI36
NG_012867.1:g.9675G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003465.3:c.304G>A MANE Select	NP_003456.1:p.Gly102Ser
ENST00000367229.6:c.304G>A MANE Select	ENSP00000356198.1:p.Gly102Ser
NM_001256125.1:c.257+611G>A	NP_001243054.2:n.257+611G>A
NM_001256125.2:c.257+611G>A	NP_001243054.2:n.257+611G>A
NM_001270509.1:c.304G>A	NP_001257438.1:p.Gly102Ser
NM_003465.2:c.304G>A	NP_003456.1:p.Gly102Ser
NR_045784.1:n.400G>A
NR_045784.2:n.341G>A
NR_045785.1:n.400G>A
NR_045785.2:n.341G>A
ENST00000255427.7:c.257+611G>A	ENSP00000255427.3:n.257+611G>A
ENST00000367229.5:c.304G>A	ENSP00000356198.1:p.Gly102Ser
ENST00000484834.5:n.4661G>A
ENST00000491855.5:c.304G>A	ENSP00000423778.1:p.Gly102Ser
ENST00000503786.1:c.304G>A	ENSP00000421617.1:p.Gly102Ser
ENST00000513472.5:n.500G>A
XM_011509109.1:c.349G>A	XP_011507411.1:p.Gly117Ser
XM_011509110.1:c.349G>A	XP_011507412.1:p.Gly117Ser
XR_921732.1:n.349G>A