Canonical Allele Identifier: CA376729995

Gene: CHAT

Linked Data

• MyVariant Identifiers: chr10:g.50833593T>A (hg19) ; chr10:g.49625547T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49625547T>A , CM000672.2:g.49625547T>A	GRCh38
NC_000010.10:g.50833593T>A , CM000672.1:g.50833593T>A	GRCh37
NC_000010.9:g.50503599T>A	NCBI36
NG_011797.1:g.21453T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000337653.7:c.827T>A MANE Select	ENSP00000337103.2:p.Leu276His
ENST00000337653.6:c.827T>A	ENSP00000337103.2:p.Leu276His
ENST00000339797.5:c.473T>A	ENSP00000343486.1:p.Leu158His
ENST00000351556.7:c.473T>A	ENSP00000345878.3:p.Leu158His
ENST00000395559.6:c.473T>A	ENSP00000378926.2:p.Leu158His
ENST00000395562.2:c.581T>A	ENSP00000378929.2:p.Leu194His
ENST00000466590.6:c.*558T>A	ENSP00000473443.1:n.*558T>A
NM_001142929.1:c.473T>A	NP_001136401.1:p.Leu158His
NM_001142933.1:c.581T>A	NP_001136405.1:p.Leu194His
NM_001142934.1:c.473T>A	NP_001136406.1:p.Leu158His
NM_020549.4:c.827T>A	NP_065574.3:p.Leu276His
NM_020984.3:c.473T>A	NP_066264.3:p.Leu158His
NM_020985.3:c.473T>A	NP_066265.3:p.Leu158His
NM_020986.3:c.473T>A	NP_066266.3:p.Leu158His
NM_001142929.2:c.473T>A	NP_001136401.2:p.Leu158His
NM_001142933.2:c.581T>A	NP_001136405.2:p.Leu194His
NM_001142934.2:c.473T>A	NP_001136406.2:p.Leu158His
NM_020549.5:c.827T>A MANE Select	NP_065574.4:p.Leu276His
NM_020984.4:c.473T>A	NP_066264.4:p.Leu158His
NM_020985.4:c.473T>A	NP_066265.4:p.Leu158His
NM_020986.4:c.473T>A	NP_066266.4:p.Leu158His