Canonical Allele Identifier: CA376747546

Gene: CHAT

Linked Data

• ClinVar Variation Id: 2301069
• ClinVar RCV Id: RCV002883348
• dbSNP Id: rs1411285839
• MyVariant Identifiers: chr10:g.50863203G>C (hg19) ; chr10:g.49655157G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49655157G>C , CM000672.2:g.49655157G>C	GRCh38
NC_000010.10:g.50863203G>C , CM000672.1:g.50863203G>C	GRCh37
NC_000010.9:g.50533209G>C	NCBI36
NG_011797.1:g.51063G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337653.7:c.1697G>C MANE Select	ENSP00000337103.2:p.Arg566Pro
ENST00000638282.1:c.*534G>C	ENSP00000492646.1:n.*534G>C
ENST00000638683.1:n.334G>C
ENST00000640822.1:c.560G>C	ENSP00000491328.1:p.Arg187Pro
ENST00000337653.6:c.1697G>C	ENSP00000337103.2:p.Arg566Pro
ENST00000339797.5:c.1343G>C	ENSP00000343486.1:p.Arg448Pro
ENST00000351556.7:c.1343G>C	ENSP00000345878.3:p.Arg448Pro
ENST00000395559.6:c.1343G>C	ENSP00000378926.2:p.Arg448Pro
ENST00000395562.2:c.1451G>C	ENSP00000378929.2:p.Arg484Pro
ENST00000466590.6:c.*1428G>C	ENSP00000473443.1:n.*1428G>C
NM_001142929.1:c.1343G>C	NP_001136401.1:p.Arg448Pro
NM_001142933.1:c.1451G>C	NP_001136405.1:p.Arg484Pro
NM_001142934.1:c.1343G>C	NP_001136406.1:p.Arg448Pro
NM_020549.4:c.1697G>C	NP_065574.3:p.Arg566Pro
NM_020984.3:c.1343G>C	NP_066264.3:p.Arg448Pro
NM_020985.3:c.1343G>C	NP_066265.3:p.Arg448Pro
NM_020986.3:c.1343G>C	NP_066266.3:p.Arg448Pro
NM_001142929.2:c.1343G>C	NP_001136401.2:p.Arg448Pro
NM_001142933.2:c.1451G>C	NP_001136405.2:p.Arg484Pro
NM_001142934.2:c.1343G>C	NP_001136406.2:p.Arg448Pro
NM_020549.5:c.1697G>C MANE Select	NP_065574.4:p.Arg566Pro
NM_020984.4:c.1343G>C	NP_066264.4:p.Arg448Pro
NM_020985.4:c.1343G>C	NP_066265.4:p.Arg448Pro
NM_020986.4:c.1343G>C	NP_066266.4:p.Arg448Pro