Canonical Allele Identifier: CA376747340

Gene: CHAT

Linked Data

• MyVariant Identifiers: chr10:g.50863184C>G (hg19) ; chr10:g.49655138C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49655138C>G , CM000672.2:g.49655138C>G	GRCh38
NC_000010.10:g.50863184C>G , CM000672.1:g.50863184C>G	GRCh37
NC_000010.9:g.50533190C>G	NCBI36
NG_011797.1:g.51044C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000337653.7:c.1678C>G MANE Select	ENSP00000337103.2:p.Arg560Gly
ENST00000638282.1:c.*515C>G	ENSP00000492646.1:n.*515C>G
ENST00000638683.1:n.315C>G
ENST00000640822.1:c.541C>G	ENSP00000491328.1:p.Arg181Gly
ENST00000337653.6:c.1678C>G	ENSP00000337103.2:p.Arg560Gly
ENST00000339797.5:c.1324C>G	ENSP00000343486.1:p.Arg442Gly
ENST00000351556.7:c.1324C>G	ENSP00000345878.3:p.Arg442Gly
ENST00000395559.6:c.1324C>G	ENSP00000378926.2:p.Arg442Gly
ENST00000395562.2:c.1432C>G	ENSP00000378929.2:p.Arg478Gly
ENST00000466590.6:c.*1409C>G	ENSP00000473443.1:n.*1409C>G
NM_001142929.1:c.1324C>G	NP_001136401.1:p.Arg442Gly
NM_001142933.1:c.1432C>G	NP_001136405.1:p.Arg478Gly
NM_001142934.1:c.1324C>G	NP_001136406.1:p.Arg442Gly
NM_020549.4:c.1678C>G	NP_065574.3:p.Arg560Gly
NM_020984.3:c.1324C>G	NP_066264.3:p.Arg442Gly
NM_020985.3:c.1324C>G	NP_066265.3:p.Arg442Gly
NM_020986.3:c.1324C>G	NP_066266.3:p.Arg442Gly
NM_001142929.2:c.1324C>G	NP_001136401.2:p.Arg442Gly
NM_001142933.2:c.1432C>G	NP_001136405.2:p.Arg478Gly
NM_001142934.2:c.1324C>G	NP_001136406.2:p.Arg442Gly
NM_020549.5:c.1678C>G MANE Select	NP_065574.4:p.Arg560Gly
NM_020984.4:c.1324C>G	NP_066264.4:p.Arg442Gly
NM_020985.4:c.1324C>G	NP_066265.4:p.Arg442Gly
NM_020986.4:c.1324C>G	NP_066266.4:p.Arg442Gly