Canonical Allele Identifier: CA1340032

Gene: CHIT1

Linked Data

• dbSNP Id: rs547556584
• ExAC: 1:203194805 C / T
• gnomAD v2: 1-203194805-C-T
• gnomAD v3: 1-203225677-C-T
• gnomAD v4: 1-203225677-C-T
• MyVariant Identifiers: chr1:g.203194805C>T (hg19) ; chr1:g.203225677C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.203225677C>T , CM000663.2:g.203225677C>T	GRCh38
NC_000001.10:g.203194805C>T , CM000663.1:g.203194805C>T	GRCh37
NC_000001.9:g.201461428C>T	NCBI36
NG_012867.1:g.9056G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367229.6:c.249G>A MANE Select	ENSP00000356198.1:p.Leu83=
ENST00000255427.7:c.249G>A	ENSP00000255427.3:p.Leu83=
ENST00000367229.5:c.249G>A	ENSP00000356198.1:p.Leu83=
ENST00000484834.5:n.4606G>A
ENST00000491855.5:c.249G>A	ENSP00000423778.1:p.Leu83=
ENST00000503786.1:c.249G>A	ENSP00000421617.1:p.Leu83=
ENST00000513472.5:n.445G>A
NM_001256125.1:c.249G>A	NP_001243054.2:p.Leu83=
NM_001270509.1:c.249G>A	NP_001257438.1:p.Leu83=
NM_003465.2:c.249G>A	NP_003456.1:p.Leu83=
NR_045784.1:n.345G>A
NR_045785.1:n.345G>A
XM_011509109.1:c.294G>A	XP_011507411.1:p.Leu98=
XM_011509110.1:c.294G>A	XP_011507412.1:p.Leu98=
XR_921732.1:n.294G>A
NM_003465.3:c.249G>A MANE Select	NP_003456.1:p.Leu83=
NM_001256125.2:c.249G>A	NP_001243054.2:p.Leu83=
NR_045784.2:n.286G>A
NR_045785.2:n.286G>A