Canonical Allele Identifier: CA376731427

Gene: CHAT

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49627743G>C , CM000672.2:g.49627743G>C	GRCh38
NC_000010.10:g.50835789G>C , CM000672.1:g.50835789G>C	GRCh37
NC_000010.9:g.50505795G>C	NCBI36
NG_011797.1:g.23649G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_020549.5:c.1069G>C MANE Select	NP_065574.4:p.Gly357Arg
ENST00000337653.7:c.1069G>C MANE Select	ENSP00000337103.2:p.Gly357Arg
NM_001142929.1:c.715G>C	NP_001136401.1:p.Gly239Arg
NM_001142929.2:c.715G>C	NP_001136401.2:p.Gly239Arg
NM_001142933.1:c.823G>C	NP_001136405.1:p.Gly275Arg
NM_001142933.2:c.823G>C	NP_001136405.2:p.Gly275Arg
NM_001142934.1:c.715G>C	NP_001136406.1:p.Gly239Arg
NM_001142934.2:c.715G>C	NP_001136406.2:p.Gly239Arg
NM_020549.4:c.1069G>C	NP_065574.3:p.Gly357Arg
NM_020984.3:c.715G>C	NP_066264.3:p.Gly239Arg
NM_020984.4:c.715G>C	NP_066264.4:p.Gly239Arg
NM_020985.3:c.715G>C	NP_066265.3:p.Gly239Arg
NM_020985.4:c.715G>C	NP_066265.4:p.Gly239Arg
NM_020986.3:c.715G>C	NP_066266.3:p.Gly239Arg
NM_020986.4:c.715G>C	NP_066266.4:p.Gly239Arg
ENST00000337653.6:c.1069G>C	ENSP00000337103.2:p.Gly357Arg
ENST00000339797.5:c.715G>C	ENSP00000343486.1:p.Gly239Arg
ENST00000351556.7:c.715G>C	ENSP00000345878.3:p.Gly239Arg
ENST00000395559.6:c.715G>C	ENSP00000378926.2:p.Gly239Arg
ENST00000395562.2:c.823G>C	ENSP00000378929.2:p.Gly275Arg
ENST00000466590.6:c.*800G>C	ENSP00000473443.1:n.*800G>C