Canonical Allele Identifier: CA376747493

Gene: CHAT

Linked Data

• MyVariant Identifiers: chr10:g.50863196G>C (hg19) ; chr10:g.49655150G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49655150G>C , CM000672.2:g.49655150G>C	GRCh38
NC_000010.10:g.50863196G>C , CM000672.1:g.50863196G>C	GRCh37
NC_000010.9:g.50533202G>C	NCBI36
NG_011797.1:g.51056G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000337653.7:c.1690G>C MANE Select	ENSP00000337103.2:p.Glu564Gln
ENST00000638282.1:c.*527G>C	ENSP00000492646.1:n.*527G>C
ENST00000638683.1:n.327G>C
ENST00000640822.1:c.553G>C	ENSP00000491328.1:p.Glu185Gln
ENST00000337653.6:c.1690G>C	ENSP00000337103.2:p.Glu564Gln
ENST00000339797.5:c.1336G>C	ENSP00000343486.1:p.Glu446Gln
ENST00000351556.7:c.1336G>C	ENSP00000345878.3:p.Glu446Gln
ENST00000395559.6:c.1336G>C	ENSP00000378926.2:p.Glu446Gln
ENST00000395562.2:c.1444G>C	ENSP00000378929.2:p.Glu482Gln
ENST00000466590.6:c.*1421G>C	ENSP00000473443.1:n.*1421G>C
NM_001142929.1:c.1336G>C	NP_001136401.1:p.Glu446Gln
NM_001142933.1:c.1444G>C	NP_001136405.1:p.Glu482Gln
NM_001142934.1:c.1336G>C	NP_001136406.1:p.Glu446Gln
NM_020549.4:c.1690G>C	NP_065574.3:p.Glu564Gln
NM_020984.3:c.1336G>C	NP_066264.3:p.Glu446Gln
NM_020985.3:c.1336G>C	NP_066265.3:p.Glu446Gln
NM_020986.3:c.1336G>C	NP_066266.3:p.Glu446Gln
NM_001142929.2:c.1336G>C	NP_001136401.2:p.Glu446Gln
NM_001142933.2:c.1444G>C	NP_001136405.2:p.Glu482Gln
NM_001142934.2:c.1336G>C	NP_001136406.2:p.Glu446Gln
NM_020549.5:c.1690G>C MANE Select	NP_065574.4:p.Glu564Gln
NM_020984.4:c.1336G>C	NP_066264.4:p.Glu446Gln
NM_020985.4:c.1336G>C	NP_066265.4:p.Glu446Gln
NM_020986.4:c.1336G>C	NP_066266.4:p.Glu446Gln