Canonical Allele Identifier: CA658657961

Gene: CHAT

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49648606G= , CM000672.2:g.49648606G=	GRCh38
NC_000010.10:g.50856652G= , CM000672.1:g.50856652G=	GRCh37
NC_000010.9:g.50526658G=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_020549.5:c.1381G= MANE Select	NP_065574.4:p.Val461=
ENST00000337653.7:c.1381G= MANE Select	ENSP00000337103.2:p.Val461=
NM_001142929.2:c.1027G=	NP_001136401.2:p.Val343=
NM_001142933.2:c.1135G=	NP_001136405.2:p.Val379=
NM_001142934.2:c.1027G=	NP_001136406.2:p.Val343=
NM_020984.4:c.1027G=	NP_066264.4:p.Val343=
NM_020985.4:c.1027G=	NP_066265.4:p.Val343=
NM_020986.4:c.1027G=	NP_066266.4:p.Val343=
ENST00000337653.6:c.1381G=	ENSP00000337103.2:p.Val461=
ENST00000339797.5:c.1027G=	ENSP00000343486.1:p.Val343=
ENST00000351556.7:c.1027G=	ENSP00000345878.3:p.Val343=
ENST00000395559.6:c.1027G=	ENSP00000378926.2:p.Val343=
ENST00000395562.2:c.1135G=	ENSP00000378929.2:p.Val379=
ENST00000466590.6:c.*1112G=	ENSP00000473443.1:n.*1112G=
ENST00000638282.1:c.*218G=	ENSP00000492646.1:n.*218G=
ENST00000640822.1:c.244G=	ENSP00000491328.1:p.Val82=