Canonical Allele Identifier: CA1908821569
Gene: CHAT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49625540T= , CM000672.2:g.49625540T= GRCh38
NC_000010.10:g.50833586T= , CM000672.1:g.50833586T= GRCh37
NC_000010.9:g.50503592T= NCBI36
NG_011797.1:g.21446T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000337653.7:c.820T= MANE Select ENSP00000337103.2:p.Tyr274=
ENST00000337653.6:c.820T= ENSP00000337103.2:p.Tyr274=
ENST00000339797.5:c.466T= ENSP00000343486.1:p.Tyr156=
ENST00000351556.7:c.466T= ENSP00000345878.3:p.Tyr156=
ENST00000395559.6:c.466T= ENSP00000378926.2:p.Tyr156=
ENST00000395562.2:c.574T= ENSP00000378929.2:p.Tyr192=
ENST00000466590.6:c.*551T= ENSP00000473443.1:n.*551T=
NM_001142929.1:c.466T= NP_001136401.1:p.Tyr156=
NM_001142933.1:c.574T= NP_001136405.1:p.Tyr192=
NM_001142934.1:c.466T= NP_001136406.1:p.Tyr156=
NM_020549.4:c.820T= NP_065574.3:p.Tyr274=
NM_020984.3:c.466T= NP_066264.3:p.Tyr156=
NM_020985.3:c.466T= NP_066265.3:p.Tyr156=
NM_020986.3:c.466T= NP_066266.3:p.Tyr156=
NM_001142929.2:c.466T= NP_001136401.2:p.Tyr156=
NM_001142933.2:c.574T= NP_001136405.2:p.Tyr192=
NM_001142934.2:c.466T= NP_001136406.2:p.Tyr156=
NM_020549.5:c.820T= MANE Select NP_065574.4:p.Tyr274=
NM_020984.4:c.466T= NP_066264.4:p.Tyr156=
NM_020985.4:c.466T= NP_066265.4:p.Tyr156=
NM_020986.4:c.466T= NP_066266.4:p.Tyr156=