Canonical Allele Identifier: CA1340039

Gene: CHIT1

Linked Data

• dbSNP Id: rs776728163
• ExAC: 1:203194831 T / C
• gnomAD v2: 1-203194831-T-C
• gnomAD v3: 1-203225703-T-C
• gnomAD v4: 1-203225703-T-C
• MyVariant Identifiers: chr1:g.203194831T>C (hg19) ; chr1:g.203225703T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.203225703T>C , CM000663.2:g.203225703T>C	GRCh38
NC_000001.10:g.203194831T>C , CM000663.1:g.203194831T>C	GRCh37
NC_000001.9:g.201461454T>C	NCBI36
NG_012867.1:g.9030A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367229.6:c.223A>G MANE Select	ENSP00000356198.1:p.Thr75Ala
ENST00000255427.7:c.223A>G	ENSP00000255427.3:p.Thr75Ala
ENST00000367229.5:c.223A>G	ENSP00000356198.1:p.Thr75Ala
ENST00000484834.5:n.4580A>G
ENST00000491855.5:c.223A>G	ENSP00000423778.1:p.Thr75Ala
ENST00000503786.1:c.223A>G	ENSP00000421617.1:p.Thr75Ala
ENST00000513472.5:n.419A>G
NM_001256125.1:c.223A>G	NP_001243054.2:p.Thr75Ala
NM_001270509.1:c.223A>G	NP_001257438.1:p.Thr75Ala
NM_003465.2:c.223A>G	NP_003456.1:p.Thr75Ala
NR_045784.1:n.319A>G
NR_045785.1:n.319A>G
XM_011509109.1:c.268A>G	XP_011507411.1:p.Thr90Ala
XM_011509110.1:c.268A>G	XP_011507412.1:p.Thr90Ala
XR_921732.1:n.268A>G
NM_003465.3:c.223A>G MANE Select	NP_003456.1:p.Thr75Ala
NM_001256125.2:c.223A>G	NP_001243054.2:p.Thr75Ala
NR_045784.2:n.260A>G
NR_045785.2:n.260A>G