Canonical Allele Identifier: CA5497024

Gene: CHAT

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49614274A>C , CM000672.2:g.49614274A>C	GRCh38
NC_000010.10:g.50822320A>C , CM000672.1:g.50822320A>C	GRCh37
NC_000010.9:g.50492326A>C	NCBI36
NG_011797.1:g.10180A>C
NG_053144.1:g.8974A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337653.7:c.85A>C MANE Select	ENSP00000337103.2:p.Arg29=
ENST00000337653.6:c.85A>C	ENSP00000337103.2:p.Arg29=
ENST00000339797.5:c.-68-2228A>C	ENSP00000343486.1:n.-68-2228A>C
ENST00000351556.7:c.-240-30A>C	ENSP00000345878.3:n.-240-30A>C
ENST00000395559.6:c.-69+1072A>C	ENSP00000378926.2:n.-69+1072A>C
ENST00000395562.2:c.-232A>C	ENSP00000378929.2:n.-232A>C
ENST00000460699.5:n.96-30A>C
ENST00000466590.6:c.85A>C	ENSP00000473443.1:p.Arg29=
ENST00000481336.5:n.84+1072A>C
NM_001142929.1:c.-270A>C	NP_001136401.1:n.-270A>C
NM_001142933.1:c.-232A>C	NP_001136405.1:n.-232A>C
NM_001142934.1:c.-340A>C	NP_001136406.1:n.-340A>C
NM_020549.4:c.85A>C	NP_065574.3:p.Arg29=
NM_020984.3:c.-68-2228A>C	NP_066264.3:n.-68-2228A>C
NM_020985.3:c.-240-30A>C	NP_066265.3:n.-240-30A>C
NM_020986.3:c.-69+1072A>C	NP_066266.3:n.-69+1072A>C
NM_001142929.2:c.-270A>C	NP_001136401.2:n.-270A>C
NM_001142933.2:c.-232A>C	NP_001136405.2:n.-232A>C
NM_001142934.2:c.-340A>C	NP_001136406.2:n.-340A>C
NM_020549.5:c.85A>C MANE Select	NP_065574.4:p.Arg29=
NM_020984.4:c.-68-2228A>C	NP_066264.4:n.-68-2228A>C
NM_020985.4:c.-240-30A>C	NP_066265.4:n.-240-30A>C
NM_020986.4:c.-69+1072A>C	NP_066266.4:n.-69+1072A>C