Canonical Allele Identifier: CA1908811180

Gene: CHAT

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49619755C= , CM000672.2:g.49619755C=	GRCh38
NC_000010.10:g.50827801C= , CM000672.1:g.50827801C=	GRCh37
NC_000010.9:g.50497807C=	NCBI36
NG_011797.1:g.15661C=

Transcript Alleles

HGVS	Amino-acid Change
NM_020549.5:c.418C= MANE Select	NP_065574.4:p.Gln140=
ENST00000337653.7:c.418C= MANE Select	ENSP00000337103.2:p.Gln140=
NM_001142929.1:c.64C=	NP_001136401.1:p.Gln22=
NM_001142929.2:c.64C=	NP_001136401.2:p.Gln22=
NM_001142933.1:c.172C=	NP_001136405.1:p.Gln58=
NM_001142933.2:c.172C=	NP_001136405.2:p.Gln58=
NM_001142934.1:c.64C=	NP_001136406.1:p.Gln22=
NM_001142934.2:c.64C=	NP_001136406.2:p.Gln22=
NM_020549.4:c.418C=	NP_065574.3:p.Gln140=
NM_020984.3:c.64C=	NP_066264.3:p.Gln22=
NM_020984.4:c.64C=	NP_066264.4:p.Gln22=
NM_020985.3:c.64C=	NP_066265.3:p.Gln22=
NM_020985.4:c.64C=	NP_066265.4:p.Gln22=
NM_020986.3:c.64C=	NP_066266.3:p.Gln22=
NM_020986.4:c.64C=	NP_066266.4:p.Gln22=
ENST00000337653.6:c.418C=	ENSP00000337103.2:p.Gln140=
ENST00000339797.5:c.64C=	ENSP00000343486.1:p.Gln22=
ENST00000351556.7:c.64C=	ENSP00000345878.3:p.Gln22=
ENST00000395559.6:c.64C=	ENSP00000378926.2:p.Gln22=
ENST00000395562.2:c.172C=	ENSP00000378929.2:p.Gln58=
ENST00000460699.5:n.399C=
ENST00000466590.6:c.*149C=	ENSP00000473443.1:n.*149C=
ENST00000481336.5:n.216C=
ENST00000490270.1:n.468C=