Canonical Allele Identifier: CA10587084

Gene: CHAT

Linked Data

• ClinVar Variation Id: 261333
• ClinVar RCV Id: RCV000253999 ; RCV001506274
• dbSNP Id: rs778636468
• gnomAD v4: 10-49614447-G-A
• MyVariant Identifiers: chr10:g.50822493G>A (hg19) ; chr10:g.49614447G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49614447G>A , CM000672.2:g.49614447G>A	GRCh38
NC_000010.10:g.50822493G>A , CM000672.1:g.50822493G>A	GRCh37
NC_000010.9:g.50492499G>A	NCBI36
NG_011797.1:g.10353G>A
NG_053144.1:g.9147G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000337653.7:c.258G>A MANE Select	ENSP00000337103.2:p.Ser86=
ENST00000337653.6:c.258G>A	ENSP00000337103.2:p.Ser86=
ENST00000339797.5:c.-68-2055G>A	ENSP00000343486.1:n.-68-2055G>A
ENST00000351556.7:c.-97G>A	ENSP00000345878.3:n.-97G>A
ENST00000395559.6:c.-69+1245G>A	ENSP00000378926.2:n.-69+1245G>A
ENST00000395562.2:c.-59G>A	ENSP00000378929.2:n.-59G>A
ENST00000460699.5:n.239G>A
ENST00000466590.6:c.258G>A	ENSP00000473443.1:p.Ser86=
ENST00000481336.5:n.84+1245G>A
NM_001142929.1:c.-97G>A	NP_001136401.1:n.-97G>A
NM_001142933.1:c.-59G>A	NP_001136405.1:n.-59G>A
NM_001142934.1:c.-167G>A	NP_001136406.1:n.-167G>A
NM_020549.4:c.258G>A	NP_065574.3:p.Ser86=
NM_020984.3:c.-68-2055G>A	NP_066264.3:n.-68-2055G>A
NM_020985.3:c.-97G>A	NP_066265.3:n.-97G>A
NM_020986.3:c.-69+1245G>A	NP_066266.3:n.-69+1245G>A
NM_001142929.2:c.-97G>A	NP_001136401.2:n.-97G>A
NM_001142933.2:c.-59G>A	NP_001136405.2:n.-59G>A
NM_001142934.2:c.-167G>A	NP_001136406.2:n.-167G>A
NM_020549.5:c.258G>A MANE Select	NP_065574.4:p.Ser86=
NM_020984.4:c.-68-2055G>A	NP_066264.4:n.-68-2055G>A
NM_020985.4:c.-97G>A	NP_066265.4:n.-97G>A
NM_020986.4:c.-69+1245G>A	NP_066266.4:n.-69+1245G>A