Canonical Allele Identifier: CA528531197

Gene: CHIT1

Linked Data

• dbSNP Id: rs1400349248
• gnomAD v2: 1-203194762-C-T
• gnomAD v4: 1-203225634-C-T
• MyVariant Identifiers: chr1:g.203194762C>T (hg19) ; chr1:g.203225634C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.203225634C>T , CM000663.2:g.203225634C>T	GRCh38
NC_000001.10:g.203194762C>T , CM000663.1:g.203194762C>T	GRCh37
NC_000001.9:g.201461385C>T	NCBI36
NG_012867.1:g.9099G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367229.6:c.257+35G>A MANE Select	ENSP00000356198.1:n.257+35G>A
ENST00000255427.7:c.257+35G>A	ENSP00000255427.3:n.257+35G>A
ENST00000367229.5:c.257+35G>A	ENSP00000356198.1:n.257+35G>A
ENST00000484834.5:n.4614+35G>A
ENST00000491855.5:c.257+35G>A	ENSP00000423778.1:n.257+35G>A
ENST00000503786.1:c.257+35G>A	ENSP00000421617.1:n.257+35G>A
ENST00000513472.5:n.453+35G>A
NM_001256125.1:c.257+35G>A	NP_001243054.2:n.257+35G>A
NM_001270509.1:c.257+35G>A	NP_001257438.1:n.257+35G>A
NM_003465.2:c.257+35G>A	NP_003456.1:n.257+35G>A
NR_045784.1:n.353+35G>A
NR_045785.1:n.353+35G>A
XM_011509109.1:c.302+35G>A	XP_011507411.1:n.302+35G>A
XM_011509110.1:c.302+35G>A	XP_011507412.1:n.302+35G>A
XR_921732.1:n.302+35G>A
NM_003465.3:c.257+35G>A MANE Select	NP_003456.1:n.257+35G>A
NM_001256125.2:c.257+35G>A	NP_001243054.2:n.257+35G>A
NR_045784.2:n.294+35G>A
NR_045785.2:n.294+35G>A