Canonical Allele Identifier: CA2609118564

Gene: CHAT

Linked Data

• gnomAD v4: 10-49655371-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49655371G>A , CM000672.2:g.49655371G>A	GRCh38
NC_000010.10:g.50863417G>A , CM000672.1:g.50863417G>A	GRCh37
NC_000010.9:g.50533423G>A	NCBI36
NG_011797.1:g.51277G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000337653.7:c.1777-15G>A MANE Select	ENSP00000337103.2:n.1777-15G>A
ENST00000638282.1:c.*614-15G>A	ENSP00000492646.1:n.*614-15G>A
ENST00000638683.1:n.414-15G>A
ENST00000640822.1:c.640-15G>A	ENSP00000491328.1:n.640-15G>A
ENST00000337653.6:c.1777-15G>A	ENSP00000337103.2:n.1777-15G>A
ENST00000339797.5:c.1423-15G>A	ENSP00000343486.1:n.1423-15G>A
ENST00000351556.7:c.1423-15G>A	ENSP00000345878.3:n.1423-15G>A
ENST00000395559.6:c.1423-15G>A	ENSP00000378926.2:n.1423-15G>A
ENST00000395562.2:c.1531-15G>A	ENSP00000378929.2:n.1531-15G>A
ENST00000466590.6:c.*1508-15G>A	ENSP00000473443.1:n.*1508-15G>A
NM_001142929.1:c.1423-15G>A	NP_001136401.1:n.1423-15G>A
NM_001142933.1:c.1531-15G>A	NP_001136405.1:n.1531-15G>A
NM_001142934.1:c.1423-15G>A	NP_001136406.1:n.1423-15G>A
NM_020549.4:c.1777-15G>A	NP_065574.3:n.1777-15G>A
NM_020984.3:c.1423-15G>A	NP_066264.3:n.1423-15G>A
NM_020985.3:c.1423-15G>A	NP_066265.3:n.1423-15G>A
NM_020986.3:c.1423-15G>A	NP_066266.3:n.1423-15G>A
NM_001142929.2:c.1423-15G>A	NP_001136401.2:n.1423-15G>A
NM_001142933.2:c.1531-15G>A	NP_001136405.2:n.1531-15G>A
NM_001142934.2:c.1423-15G>A	NP_001136406.2:n.1423-15G>A
NM_020549.5:c.1777-15G>A MANE Select	NP_065574.4:n.1777-15G>A
NM_020984.4:c.1423-15G>A	NP_066264.4:n.1423-15G>A
NM_020985.4:c.1423-15G>A	NP_066265.4:n.1423-15G>A
NM_020986.4:c.1423-15G>A	NP_066266.4:n.1423-15G>A