Canonical Allele Identifier: CA5497596

Gene: CHAT

Linked Data

• ClinVar Variation Id: 1444825
• ClinVar RCV Id: RCV001955999
• dbSNP Id: rs368957556
• ExAC: 10:50863202 C / T
• gnomAD v2: 10-50863202-C-T
• gnomAD v4: 10-49655156-C-T
• MyVariant Identifiers: chr10:g.50863202C>T (hg19) ; chr10:g.49655156C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49655156C>T , CM000672.2:g.49655156C>T	GRCh38
NC_000010.10:g.50863202C>T , CM000672.1:g.50863202C>T	GRCh37
NC_000010.9:g.50533208C>T	NCBI36
NG_011797.1:g.51062C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337653.7:c.1696C>T MANE Select	ENSP00000337103.2:p.Arg566Cys
ENST00000638282.1:c.*533C>T	ENSP00000492646.1:n.*533C>T
ENST00000638683.1:n.333C>T
ENST00000640822.1:c.559C>T	ENSP00000491328.1:p.Arg187Cys
ENST00000337653.6:c.1696C>T	ENSP00000337103.2:p.Arg566Cys
ENST00000339797.5:c.1342C>T	ENSP00000343486.1:p.Arg448Cys
ENST00000351556.7:c.1342C>T	ENSP00000345878.3:p.Arg448Cys
ENST00000395559.6:c.1342C>T	ENSP00000378926.2:p.Arg448Cys
ENST00000395562.2:c.1450C>T	ENSP00000378929.2:p.Arg484Cys
ENST00000466590.6:c.*1427C>T	ENSP00000473443.1:n.*1427C>T
NM_001142929.1:c.1342C>T	NP_001136401.1:p.Arg448Cys
NM_001142933.1:c.1450C>T	NP_001136405.1:p.Arg484Cys
NM_001142934.1:c.1342C>T	NP_001136406.1:p.Arg448Cys
NM_020549.4:c.1696C>T	NP_065574.3:p.Arg566Cys
NM_020984.3:c.1342C>T	NP_066264.3:p.Arg448Cys
NM_020985.3:c.1342C>T	NP_066265.3:p.Arg448Cys
NM_020986.3:c.1342C>T	NP_066266.3:p.Arg448Cys
NM_001142929.2:c.1342C>T	NP_001136401.2:p.Arg448Cys
NM_001142933.2:c.1450C>T	NP_001136405.2:p.Arg484Cys
NM_001142934.2:c.1342C>T	NP_001136406.2:p.Arg448Cys
NM_020549.5:c.1696C>T MANE Select	NP_065574.4:p.Arg566Cys
NM_020984.4:c.1342C>T	NP_066264.4:p.Arg448Cys
NM_020985.4:c.1342C>T	NP_066265.4:p.Arg448Cys
NM_020986.4:c.1342C>T	NP_066266.4:p.Arg448Cys