Canonical Allele Identifier: CA376747799

Gene: CHAT

Linked Data

• dbSNP Id: rs2132830747
• MyVariant Identifiers: chr10:g.50863235G>T (hg19) ; chr10:g.49655189G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49655189G>T , CM000672.2:g.49655189G>T	GRCh38
NC_000010.10:g.50863235G>T , CM000672.1:g.50863235G>T	GRCh37
NC_000010.9:g.50533241G>T	NCBI36
NG_011797.1:g.51095G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337653.7:c.1729G>T MANE Select	ENSP00000337103.2:p.Ala577Ser
ENST00000638282.1:c.*566G>T	ENSP00000492646.1:n.*566G>T
ENST00000638683.1:n.366G>T
ENST00000640822.1:c.592G>T	ENSP00000491328.1:p.Ala198Ser
ENST00000337653.6:c.1729G>T	ENSP00000337103.2:p.Ala577Ser
ENST00000339797.5:c.1375G>T	ENSP00000343486.1:p.Ala459Ser
ENST00000351556.7:c.1375G>T	ENSP00000345878.3:p.Ala459Ser
ENST00000395559.6:c.1375G>T	ENSP00000378926.2:p.Ala459Ser
ENST00000395562.2:c.1483G>T	ENSP00000378929.2:p.Ala495Ser
ENST00000466590.6:c.*1460G>T	ENSP00000473443.1:n.*1460G>T
NM_001142929.1:c.1375G>T	NP_001136401.1:p.Ala459Ser
NM_001142933.1:c.1483G>T	NP_001136405.1:p.Ala495Ser
NM_001142934.1:c.1375G>T	NP_001136406.1:p.Ala459Ser
NM_020549.4:c.1729G>T	NP_065574.3:p.Ala577Ser
NM_020984.3:c.1375G>T	NP_066264.3:p.Ala459Ser
NM_020985.3:c.1375G>T	NP_066265.3:p.Ala459Ser
NM_020986.3:c.1375G>T	NP_066266.3:p.Ala459Ser
NM_001142929.2:c.1375G>T	NP_001136401.2:p.Ala459Ser
NM_001142933.2:c.1483G>T	NP_001136405.2:p.Ala495Ser
NM_001142934.2:c.1375G>T	NP_001136406.2:p.Ala459Ser
NM_020549.5:c.1729G>T MANE Select	NP_065574.4:p.Ala577Ser
NM_020984.4:c.1375G>T	NP_066264.4:p.Ala459Ser
NM_020985.4:c.1375G>T	NP_066265.4:p.Ala459Ser
NM_020986.4:c.1375G>T	NP_066266.4:p.Ala459Ser