Canonical Allele Identifier: CA5497598
Gene: CHAT HGNC NCBI

Linked Data

ClinVar Variation Id: 1988713
ClinVar RCV Id: RCV002781438
dbSNP Id: rs764077878

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49655159G>A , CM000672.2:g.49655159G>A GRCh38
NC_000010.10:g.50863205G>A , CM000672.1:g.50863205G>A GRCh37
NC_000010.9:g.50533211G>A NCBI36
NG_011797.1:g.51065G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000337653.7:c.1699G>A MANE Select ENSP00000337103.2:p.Val567Met
ENST00000638282.1:c.*536G>A ENSP00000492646.1:n.*536G>A
ENST00000638683.1:n.336G>A
ENST00000640822.1:c.562G>A ENSP00000491328.1:p.Val188Met
ENST00000337653.6:c.1699G>A ENSP00000337103.2:p.Val567Met
ENST00000339797.5:c.1345G>A ENSP00000343486.1:p.Val449Met
ENST00000351556.7:c.1345G>A ENSP00000345878.3:p.Val449Met
ENST00000395559.6:c.1345G>A ENSP00000378926.2:p.Val449Met
ENST00000395562.2:c.1453G>A ENSP00000378929.2:p.Val485Met
ENST00000466590.6:c.*1430G>A ENSP00000473443.1:n.*1430G>A
NM_001142929.1:c.1345G>A NP_001136401.1:p.Val449Met
NM_001142933.1:c.1453G>A NP_001136405.1:p.Val485Met
NM_001142934.1:c.1345G>A NP_001136406.1:p.Val449Met
NM_020549.4:c.1699G>A NP_065574.3:p.Val567Met
NM_020984.3:c.1345G>A NP_066264.3:p.Val449Met
NM_020985.3:c.1345G>A NP_066265.3:p.Val449Met
NM_020986.3:c.1345G>A NP_066266.3:p.Val449Met
NM_001142929.2:c.1345G>A NP_001136401.2:p.Val449Met
NM_001142933.2:c.1453G>A NP_001136405.2:p.Val485Met
NM_001142934.2:c.1345G>A NP_001136406.2:p.Val449Met
NM_020549.5:c.1699G>A MANE Select NP_065574.4:p.Val567Met
NM_020984.4:c.1345G>A NP_066264.4:p.Val449Met
NM_020985.4:c.1345G>A NP_066265.4:p.Val449Met
NM_020986.4:c.1345G>A NP_066266.4:p.Val449Met