Canonical Allele Identifier: CA5497580

Gene: CHAT

Linked Data

• dbSNP Id: rs8178992
• ExAC: 10:50863147 T / A
• gnomAD v2: 10-50863147-T-A
• gnomAD v4: 10-49655101-T-A
• MyVariant Identifiers: chr10:g.50863147T>A (hg19) ; chr10:g.49655101T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49655101T>A , CM000672.2:g.49655101T>A	GRCh38
NC_000010.10:g.50863147T>A , CM000672.1:g.50863147T>A	GRCh37
NC_000010.9:g.50533153T>A	NCBI36
NG_011797.1:g.51007T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337653.7:c.1641T>A MANE Select	ENSP00000337103.2:p.His547Gln
ENST00000638282.1:c.*478T>A	ENSP00000492646.1:n.*478T>A
ENST00000638683.1:n.278T>A
ENST00000640822.1:c.504T>A	ENSP00000491328.1:p.His168Gln
ENST00000337653.6:c.1641T>A	ENSP00000337103.2:p.His547Gln
ENST00000339797.5:c.1287T>A	ENSP00000343486.1:p.His429Gln
ENST00000351556.7:c.1287T>A	ENSP00000345878.3:p.His429Gln
ENST00000395559.6:c.1287T>A	ENSP00000378926.2:p.His429Gln
ENST00000395562.2:c.1395T>A	ENSP00000378929.2:p.His465Gln
ENST00000466590.6:c.*1372T>A	ENSP00000473443.1:n.*1372T>A
NM_001142929.1:c.1287T>A	NP_001136401.1:p.His429Gln
NM_001142933.1:c.1395T>A	NP_001136405.1:p.His465Gln
NM_001142934.1:c.1287T>A	NP_001136406.1:p.His429Gln
NM_020549.4:c.1641T>A	NP_065574.3:p.His547Gln
NM_020984.3:c.1287T>A	NP_066264.3:p.His429Gln
NM_020985.3:c.1287T>A	NP_066265.3:p.His429Gln
NM_020986.3:c.1287T>A	NP_066266.3:p.His429Gln
NM_001142929.2:c.1287T>A	NP_001136401.2:p.His429Gln
NM_001142933.2:c.1395T>A	NP_001136405.2:p.His465Gln
NM_001142934.2:c.1287T>A	NP_001136406.2:p.His429Gln
NM_020549.5:c.1641T>A MANE Select	NP_065574.4:p.His547Gln
NM_020984.4:c.1287T>A	NP_066264.4:p.His429Gln
NM_020985.4:c.1287T>A	NP_066265.4:p.His429Gln
NM_020986.4:c.1287T>A	NP_066266.4:p.His429Gln