Canonical Allele Identifier: CA376744042

Gene: CHAT

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49649618C>A , CM000672.2:g.49649618C>A	GRCh38
NC_000010.10:g.50857664C>A , CM000672.1:g.50857664C>A	GRCh37
NC_000010.9:g.50527670C>A	NCBI36
NG_011797.1:g.45524C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_020549.5:c.1493C>A MANE Select	NP_065574.4:p.Ser498Ter
ENST00000337653.7:c.1493C>A MANE Select	ENSP00000337103.2:p.Ser498Ter
NM_001142929.1:c.1139C>A	NP_001136401.1:p.Ser380Ter
NM_001142929.2:c.1139C>A	NP_001136401.2:p.Ser380Ter
NM_001142933.1:c.1247C>A	NP_001136405.1:p.Ser416Ter
NM_001142933.2:c.1247C>A	NP_001136405.2:p.Ser416Ter
NM_001142934.1:c.1139C>A	NP_001136406.1:p.Ser380Ter
NM_001142934.2:c.1139C>A	NP_001136406.2:p.Ser380Ter
NM_020549.4:c.1493C>A	NP_065574.3:p.Ser498Ter
NM_020984.3:c.1139C>A	NP_066264.3:p.Ser380Ter
NM_020984.4:c.1139C>A	NP_066264.4:p.Ser380Ter
NM_020985.3:c.1139C>A	NP_066265.3:p.Ser380Ter
NM_020985.4:c.1139C>A	NP_066265.4:p.Ser380Ter
NM_020986.3:c.1139C>A	NP_066266.3:p.Ser380Ter
NM_020986.4:c.1139C>A	NP_066266.4:p.Ser380Ter
ENST00000337653.6:c.1493C>A	ENSP00000337103.2:p.Ser498Ter
ENST00000339797.5:c.1139C>A	ENSP00000343486.1:p.Ser380Ter
ENST00000351556.7:c.1139C>A	ENSP00000345878.3:p.Ser380Ter
ENST00000395559.6:c.1139C>A	ENSP00000378926.2:p.Ser380Ter
ENST00000395562.2:c.1247C>A	ENSP00000378929.2:p.Ser416Ter
ENST00000466590.6:c.*1224C>A	ENSP00000473443.1:n.*1224C>A
ENST00000638282.1:c.*330C>A	ENSP00000492646.1:n.*330C>A
ENST00000640822.1:c.356C>A	ENSP00000491328.1:p.Ser119Ter