Canonical Allele Identifier: CA5497091
Gene: CHAT HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.49616541C>T
GRCh37 chr10:g.50824587C>T
Revel Score:
ENST00000337653 (MANE Select) 0.183
ENST00000395562 0.183
gnomAD v2:
10:50824587 C / T
gnomAD v3:
10:49616541 C / T
gnomAD v4:
chr10-49616541-C-T
Joint Max Group AF 0.00012272 (AFR)
Genomes Max Group AF 0.00009543 (AFR)
Exomes Max Group AF 0.00009762 (AFR)
ClinVar Allele:
460334
ClinVar RCV:
RCV000537233
RCV004023854
ClinVar Variation:
461459
dbSNP:
542610160
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49616541C>T , CM000672.2:g.49616541C>T GRCh38
NC_000010.10:g.50824587C>T , CM000672.1:g.50824587C>T GRCh37
NC_000010.9:g.50494593C>T NCBI36
NG_011797.1:g.12447C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000337653.7:c.326C>T MANE Select ENSP00000337103.2:p.Thr109Met
ENST00000337653.6:c.326C>T ENSP00000337103.2:p.Thr109Met
ENST00000339797.5:c.-29C>T ENSP00000343486.1:n.-29C>T
ENST00000351556.7:c.-29C>T ENSP00000345878.3:n.-29C>T
ENST00000395559.6:c.-29C>T ENSP00000378926.2:n.-29C>T
ENST00000395562.2:c.80C>T ENSP00000378929.2:p.Thr27Met
ENST00000460699.5:n.307C>T
ENST00000466590.6:c.*57C>T ENSP00000473443.1:n.*57C>T
ENST00000481336.5:n.124C>T
ENST00000490270.1:n.376C>T
NM_001142929.1:c.-29C>T NP_001136401.1:n.-29C>T
NM_001142933.1:c.80C>T NP_001136405.1:p.Thr27Met
NM_001142934.1:c.-29C>T NP_001136406.1:n.-29C>T
NM_020549.4:c.326C>T NP_065574.3:p.Thr109Met
NM_020984.3:c.-29C>T NP_066264.3:n.-29C>T
NM_020985.3:c.-29C>T NP_066265.3:n.-29C>T
NM_020986.3:c.-29C>T NP_066266.3:n.-29C>T
NM_001142929.2:c.-29C>T NP_001136401.2:n.-29C>T
NM_001142933.2:c.80C>T NP_001136405.2:p.Thr27Met
NM_001142934.2:c.-29C>T NP_001136406.2:n.-29C>T
NM_020549.5:c.326C>T MANE Select NP_065574.4:p.Thr109Met
NM_020984.4:c.-29C>T NP_066264.4:n.-29C>T
NM_020985.4:c.-29C>T NP_066265.4:n.-29C>T
NM_020986.4:c.-29C>T NP_066266.4:n.-29C>T
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