Canonical Allele Identifier: CA257999
Gene: CHAT HGNC NCBI

Linked Data

ClinVar Variation Id: 17514
ClinVar RCV Id: RCV000019066
dbSNP Id: rs121912822

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49646651C>T , CM000672.2:g.49646651C>T GRCh38
NC_000010.10:g.50854697C>T , CM000672.1:g.50854697C>T GRCh37
NC_000010.9:g.50524703C>T NCBI36
NG_011797.1:g.42557C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000337653.7:c.1258C>T MANE Select ENSP00000337103.2:p.Arg420Cys
ENST00000638282.1:c.121C>T ENSP00000492646.1:p.Arg41Cys
ENST00000640822.1:c.121C>T ENSP00000491328.1:p.Arg41Cys
ENST00000337653.6:c.1258C>T ENSP00000337103.2:p.Arg420Cys
ENST00000339797.5:c.904C>T ENSP00000343486.1:p.Arg302Cys
ENST00000351556.7:c.904C>T ENSP00000345878.3:p.Arg302Cys
ENST00000395559.6:c.904C>T ENSP00000378926.2:p.Arg302Cys
ENST00000395562.2:c.1012C>T ENSP00000378929.2:p.Arg338Cys
ENST00000466590.6:c.*989C>T ENSP00000473443.1:n.*989C>T
NM_001142929.1:c.904C>T NP_001136401.1:p.Arg302Cys
NM_001142933.1:c.1012C>T NP_001136405.1:p.Arg338Cys
NM_001142934.1:c.904C>T NP_001136406.1:p.Arg302Cys
NM_020549.4:c.1258C>T NP_065574.3:p.Arg420Cys
NM_020984.3:c.904C>T NP_066264.3:p.Arg302Cys
NM_020985.3:c.904C>T NP_066265.3:p.Arg302Cys
NM_020986.3:c.904C>T NP_066266.3:p.Arg302Cys
NM_001142929.2:c.904C>T NP_001136401.2:p.Arg302Cys
NM_001142933.2:c.1012C>T NP_001136405.2:p.Arg338Cys
NM_001142934.2:c.904C>T NP_001136406.2:p.Arg302Cys
NM_020549.5:c.1258C>T MANE Select NP_065574.4:p.Arg420Cys
NM_020984.4:c.904C>T NP_066264.4:p.Arg302Cys
NM_020985.4:c.904C>T NP_066265.4:p.Arg302Cys
NM_020986.4:c.904C>T NP_066266.4:p.Arg302Cys