Canonical Allele Identifier: CA5497204
Gene: CHAT HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.49620535G>A
GRCh37 chr10:g.50828581G>A
Revel Score:
ENST00000339797 0.881
ENST00000351556 0.881
ENST00000395559 0.881
ENST00000337653 (MANE Select) 0.881
ENST00000395562 0.881
ENST00000455728 0.881
gnomAD v2:
10:50828581 G / A
gnomAD v3:
10:49620535 G / A
gnomAD v4:
chr10-49620535-G-A
Joint Max Group AF 0.0000255 (AFR)
Genomes Max Group AF 0.0000325 (AFR)
Exomes Max Group AF 0.00000194 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49620535G>A , CM000672.2:g.49620535G>A GRCh38
NC_000010.10:g.50828581G>A , CM000672.1:g.50828581G>A GRCh37
NC_000010.9:g.50498587G>A NCBI36
NG_011797.1:g.16441G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000337653.7:c.620G>A MANE Select ENSP00000337103.2:p.Arg207His
ENST00000337653.6:c.620G>A ENSP00000337103.2:p.Arg207His
ENST00000339797.5:c.266G>A ENSP00000343486.1:p.Arg89His
ENST00000351556.7:c.266G>A ENSP00000345878.3:p.Arg89His
ENST00000395559.6:c.266G>A ENSP00000378926.2:p.Arg89His
ENST00000395562.2:c.374G>A ENSP00000378929.2:p.Arg125His
ENST00000460699.5:n.601G>A
ENST00000466590.6:c.*351G>A ENSP00000473443.1:n.*351G>A
NM_001142929.1:c.266G>A NP_001136401.1:p.Arg89His
NM_001142933.1:c.374G>A NP_001136405.1:p.Arg125His
NM_001142934.1:c.266G>A NP_001136406.1:p.Arg89His
NM_020549.4:c.620G>A NP_065574.3:p.Arg207His
NM_020984.3:c.266G>A NP_066264.3:p.Arg89His
NM_020985.3:c.266G>A NP_066265.3:p.Arg89His
NM_020986.3:c.266G>A NP_066266.3:p.Arg89His
NM_001142929.2:c.266G>A NP_001136401.2:p.Arg89His
NM_001142933.2:c.374G>A NP_001136405.2:p.Arg125His
NM_001142934.2:c.266G>A NP_001136406.2:p.Arg89His
NM_020549.5:c.620G>A MANE Select NP_065574.4:p.Arg207His
NM_020984.4:c.266G>A NP_066264.4:p.Arg89His
NM_020985.4:c.266G>A NP_066265.4:p.Arg89His
NM_020986.4:c.266G>A NP_066266.4:p.Arg89His
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