Canonical Allele Identifier: CA5497063
Gene: CHAT HGNC NCBI
COSMIC:
COSM1582999 (not active)
MyVariant.info:
GRCh38 chr10:g.49616071G>A
GRCh37 chr10:g.50824117G>A
Revel Score:
ENST00000395562 0.168
gnomAD v2:
10:50824117 G / A
gnomAD v3:
10:49616071 G / A
gnomAD v4:
chr10-49616071-G-A
Joint Max Group AF 0.27327058 (SAS)
Genomes Max Group AF 0.26025444 (SAS)
Exomes Max Group AF 0.27339379 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49616071G>A , CM000672.2:g.49616071G>A GRCh38
NC_000010.10:g.50824117G>A , CM000672.1:g.50824117G>A GRCh37
NC_000010.9:g.50494123G>A NCBI36
NG_011797.1:g.11977G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000337653.7:c.287-431G>A MANE Select ENSP00000337103.2:n.287-431G>A
ENST00000337653.6:c.287-431G>A ENSP00000337103.2:n.287-431G>A
ENST00000339797.5:c.-68-431G>A ENSP00000343486.1:n.-68-431G>A
ENST00000351556.7:c.-68-431G>A ENSP00000345878.3:n.-68-431G>A
ENST00000395559.6:c.-68-431G>A ENSP00000378926.2:n.-68-431G>A
ENST00000395562.2:c.19G>A ENSP00000378929.2:p.Asp7Asn
ENST00000460699.5:n.268-431G>A
ENST00000466590.6:c.335G>A ENSP00000473443.1:p.Arg112Lys
ENST00000481336.5:n.85-431G>A
ENST00000490270.1:n.315G>A
NM_001142929.1:c.-68-431G>A NP_001136401.1:n.-68-431G>A
NM_001142933.1:c.19G>A NP_001136405.1:p.Asp7Asn
NM_001142934.1:c.-90G>A NP_001136406.1:n.-90G>A
NM_020549.4:c.287-431G>A NP_065574.3:n.287-431G>A
NM_020984.3:c.-68-431G>A NP_066264.3:n.-68-431G>A
NM_020985.3:c.-68-431G>A NP_066265.3:n.-68-431G>A
NM_020986.3:c.-68-431G>A NP_066266.3:n.-68-431G>A
NM_001142929.2:c.-68-431G>A NP_001136401.2:n.-68-431G>A
NM_001142933.2:c.19G>A NP_001136405.2:p.Asp7Asn
NM_001142934.2:c.-90G>A NP_001136406.2:n.-90G>A
NM_020549.5:c.287-431G>A MANE Select NP_065574.4:n.287-431G>A
NM_020984.4:c.-68-431G>A NP_066264.4:n.-68-431G>A
NM_020985.4:c.-68-431G>A NP_066265.4:n.-68-431G>A
NM_020986.4:c.-68-431G>A NP_066266.4:n.-68-431G>A
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