Canonical Allele Identifier: CA257984

Gene: CHAT

Linked Data

• ClinVar Variation Id: 17509
• ClinVar RCV Id: RCV000019061 ; RCV002274884
• dbSNP Id: rs121912818
• gnomAD v4: 10-49649569-A-G
• MyVariant Identifiers: chr10:g.50857615A>G (hg19) ; chr10:g.49649569A>G (hg38)
• PubMed: PMID:11172068

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49649569A>G , CM000672.2:g.49649569A>G	GRCh38
NC_000010.10:g.50857615A>G , CM000672.1:g.50857615A>G	GRCh37
NC_000010.9:g.50527621A>G	NCBI36
NG_011797.1:g.45475A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000337653.7:c.1444A>G MANE Select	ENSP00000337103.2:p.Arg482Gly
ENST00000638282.1:c.*281A>G	ENSP00000492646.1:n.*281A>G
ENST00000640822.1:c.307A>G	ENSP00000491328.1:p.Arg103Gly
ENST00000337653.6:c.1444A>G	ENSP00000337103.2:p.Arg482Gly
ENST00000339797.5:c.1090A>G	ENSP00000343486.1:p.Arg364Gly
ENST00000351556.7:c.1090A>G	ENSP00000345878.3:p.Arg364Gly
ENST00000395559.6:c.1090A>G	ENSP00000378926.2:p.Arg364Gly
ENST00000395562.2:c.1198A>G	ENSP00000378929.2:p.Arg400Gly
ENST00000466590.6:c.*1175A>G	ENSP00000473443.1:n.*1175A>G
NM_001142929.1:c.1090A>G	NP_001136401.1:p.Arg364Gly
NM_001142933.1:c.1198A>G	NP_001136405.1:p.Arg400Gly
NM_001142934.1:c.1090A>G	NP_001136406.1:p.Arg364Gly
NM_020549.4:c.1444A>G	NP_065574.3:p.Arg482Gly
NM_020984.3:c.1090A>G	NP_066264.3:p.Arg364Gly
NM_020985.3:c.1090A>G	NP_066265.3:p.Arg364Gly
NM_020986.3:c.1090A>G	NP_066266.3:p.Arg364Gly
NM_001142929.2:c.1090A>G	NP_001136401.2:p.Arg364Gly
NM_001142933.2:c.1198A>G	NP_001136405.2:p.Arg400Gly
NM_001142934.2:c.1090A>G	NP_001136406.2:p.Arg364Gly
NM_020549.5:c.1444A>G MANE Select	NP_065574.4:p.Arg482Gly
NM_020984.4:c.1090A>G	NP_066264.4:p.Arg364Gly
NM_020985.4:c.1090A>G	NP_066265.4:p.Arg364Gly
NM_020986.4:c.1090A>G	NP_066266.4:p.Arg364Gly