Canonical Allele Identifier: CA258002

Gene: CHAT

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49627681T>C , CM000672.2:g.49627681T>C	GRCh38
NC_000010.10:g.50835727T>C , CM000672.1:g.50835727T>C	GRCh37
NC_000010.9:g.50505733T>C	NCBI36
NG_011797.1:g.23587T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337653.7:c.1007T>C MANE Select	ENSP00000337103.2:p.Ile336Thr
ENST00000337653.6:c.1007T>C	ENSP00000337103.2:p.Ile336Thr
ENST00000339797.5:c.653T>C	ENSP00000343486.1:p.Ile218Thr
ENST00000351556.7:c.653T>C	ENSP00000345878.3:p.Ile218Thr
ENST00000395559.6:c.653T>C	ENSP00000378926.2:p.Ile218Thr
ENST00000395562.2:c.761T>C	ENSP00000378929.2:p.Ile254Thr
ENST00000466590.6:c.*738T>C	ENSP00000473443.1:n.*738T>C
NM_001142929.1:c.653T>C	NP_001136401.1:p.Ile218Thr
NM_001142933.1:c.761T>C	NP_001136405.1:p.Ile254Thr
NM_001142934.1:c.653T>C	NP_001136406.1:p.Ile218Thr
NM_020549.4:c.1007T>C	NP_065574.3:p.Ile336Thr
NM_020984.3:c.653T>C	NP_066264.3:p.Ile218Thr
NM_020985.3:c.653T>C	NP_066265.3:p.Ile218Thr
NM_020986.3:c.653T>C	NP_066266.3:p.Ile218Thr
NM_001142929.2:c.653T>C	NP_001136401.2:p.Ile218Thr
NM_001142933.2:c.761T>C	NP_001136405.2:p.Ile254Thr
NM_001142934.2:c.653T>C	NP_001136406.2:p.Ile218Thr
NM_020549.5:c.1007T>C MANE Select	NP_065574.4:p.Ile336Thr
NM_020984.4:c.653T>C	NP_066264.4:p.Ile218Thr
NM_020985.4:c.653T>C	NP_066265.4:p.Ile218Thr
NM_020986.4:c.653T>C	NP_066266.4:p.Ile218Thr