Canonical Allele Identifier: CA152338

Gene: CHAT

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49614330C>G , CM000672.2:g.49614330C>G	GRCh38
NC_000010.10:g.50822376C>G , CM000672.1:g.50822376C>G	GRCh37
NC_000010.9:g.50492382C>G	NCBI36
NG_011797.1:g.10236C>G
NG_053144.1:g.9030C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_020549.5:c.141C>G MANE Select	NP_065574.4:p.Asp47Glu
ENST00000337653.7:c.141C>G MANE Select	ENSP00000337103.2:p.Asp47Glu
NM_001142929.1:c.-214C>G	NP_001136401.1:n.-214C>G
NM_001142929.2:c.-214C>G	NP_001136401.2:n.-214C>G
NM_001142933.1:c.-176C>G	NP_001136405.1:n.-176C>G
NM_001142933.2:c.-176C>G	NP_001136405.2:n.-176C>G
NM_001142934.1:c.-284C>G	NP_001136406.1:n.-284C>G
NM_001142934.2:c.-284C>G	NP_001136406.2:n.-284C>G
NM_020549.4:c.141C>G	NP_065574.3:p.Asp47Glu
NM_020984.3:c.-68-2172C>G	NP_066264.3:n.-68-2172C>G
NM_020984.4:c.-68-2172C>G	NP_066264.4:n.-68-2172C>G
NM_020985.3:c.-214C>G	NP_066265.3:n.-214C>G
NM_020985.4:c.-214C>G	NP_066265.4:n.-214C>G
NM_020986.3:c.-69+1128C>G	NP_066266.3:n.-69+1128C>G
NM_020986.4:c.-69+1128C>G	NP_066266.4:n.-69+1128C>G
ENST00000337653.6:c.141C>G	ENSP00000337103.2:p.Asp47Glu
ENST00000339797.5:c.-68-2172C>G	ENSP00000343486.1:n.-68-2172C>G
ENST00000351556.7:c.-214C>G	ENSP00000345878.3:n.-214C>G
ENST00000395559.6:c.-69+1128C>G	ENSP00000378926.2:n.-69+1128C>G
ENST00000395562.2:c.-176C>G	ENSP00000378929.2:n.-176C>G
ENST00000460699.5:n.122C>G
ENST00000466590.6:c.141C>G	ENSP00000473443.1:p.Asp47Glu
ENST00000481336.5:n.84+1128C>G