Canonical Allele Identifier: CA5497609

Gene: CHAT

Linked Data

• dbSNP Id: rs376947247
• ExAC: 10:50863274 G / T
• gnomAD v4: 10-49655228-G-T
• MyVariant Identifiers: chr10:g.50863274G>T (hg19) ; chr10:g.49655228G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49655228G>T , CM000672.2:g.49655228G>T	GRCh38
NC_000010.10:g.50863274G>T , CM000672.1:g.50863274G>T	GRCh37
NC_000010.9:g.50533280G>T	NCBI36
NG_011797.1:g.51134G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337653.7:c.1768G>T MANE Select	ENSP00000337103.2:p.Ala590Ser
ENST00000638282.1:c.*605G>T	ENSP00000492646.1:n.*605G>T
ENST00000638683.1:n.405G>T
ENST00000640822.1:c.631G>T	ENSP00000491328.1:p.Ala211Ser
ENST00000337653.6:c.1768G>T	ENSP00000337103.2:p.Ala590Ser
ENST00000339797.5:c.1414G>T	ENSP00000343486.1:p.Ala472Ser
ENST00000351556.7:c.1414G>T	ENSP00000345878.3:p.Ala472Ser
ENST00000395559.6:c.1414G>T	ENSP00000378926.2:p.Ala472Ser
ENST00000395562.2:c.1522G>T	ENSP00000378929.2:p.Ala508Ser
ENST00000466590.6:c.*1499G>T	ENSP00000473443.1:n.*1499G>T
NM_001142929.1:c.1414G>T	NP_001136401.1:p.Ala472Ser
NM_001142933.1:c.1522G>T	NP_001136405.1:p.Ala508Ser
NM_001142934.1:c.1414G>T	NP_001136406.1:p.Ala472Ser
NM_020549.4:c.1768G>T	NP_065574.3:p.Ala590Ser
NM_020984.3:c.1414G>T	NP_066264.3:p.Ala472Ser
NM_020985.3:c.1414G>T	NP_066265.3:p.Ala472Ser
NM_020986.3:c.1414G>T	NP_066266.3:p.Ala472Ser
NM_001142929.2:c.1414G>T	NP_001136401.2:p.Ala472Ser
NM_001142933.2:c.1522G>T	NP_001136405.2:p.Ala508Ser
NM_001142934.2:c.1414G>T	NP_001136406.2:p.Ala472Ser
NM_020549.5:c.1768G>T MANE Select	NP_065574.4:p.Ala590Ser
NM_020984.4:c.1414G>T	NP_066264.4:p.Ala472Ser
NM_020985.4:c.1414G>T	NP_066265.4:p.Ala472Ser
NM_020986.4:c.1414G>T	NP_066266.4:p.Ala472Ser