Canonical Allele Identifier: CA5497200
Gene: CHAT HGNC NCBI

Linked Data

ClinVar Variation Id: 430062
dbSNP Id: rs376808313

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49620520T>G , CM000672.2:g.49620520T>G GRCh38
NC_000010.10:g.50828566T>G , CM000672.1:g.50828566T>G GRCh37
NC_000010.9:g.50498572T>G NCBI36
NG_011797.1:g.16426T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000337653.7:c.605T>G MANE Select ENSP00000337103.2:p.Met202Arg
ENST00000337653.6:c.605T>G ENSP00000337103.2:p.Met202Arg
ENST00000339797.5:c.251T>G ENSP00000343486.1:p.Met84Arg
ENST00000351556.7:c.251T>G ENSP00000345878.3:p.Met84Arg
ENST00000395559.6:c.251T>G ENSP00000378926.2:p.Met84Arg
ENST00000395562.2:c.359T>G ENSP00000378929.2:p.Met120Arg
ENST00000460699.5:n.586T>G
ENST00000466590.6:c.*336T>G ENSP00000473443.1:n.*336T>G
NM_001142929.1:c.251T>G NP_001136401.1:p.Met84Arg
NM_001142933.1:c.359T>G NP_001136405.1:p.Met120Arg
NM_001142934.1:c.251T>G NP_001136406.1:p.Met84Arg
NM_020549.4:c.605T>G NP_065574.3:p.Met202Arg
NM_020984.3:c.251T>G NP_066264.3:p.Met84Arg
NM_020985.3:c.251T>G NP_066265.3:p.Met84Arg
NM_020986.3:c.251T>G NP_066266.3:p.Met84Arg
NM_001142929.2:c.251T>G NP_001136401.2:p.Met84Arg
NM_001142933.2:c.359T>G NP_001136405.2:p.Met120Arg
NM_001142934.2:c.251T>G NP_001136406.2:p.Met84Arg
NM_020549.5:c.605T>G MANE Select NP_065574.4:p.Met202Arg
NM_020984.4:c.251T>G NP_066264.4:p.Met84Arg
NM_020985.4:c.251T>G NP_066265.4:p.Met84Arg
NM_020986.4:c.251T>G NP_066266.4:p.Met84Arg