Canonical Allele Identifier: CA5497277

Gene: CHAT

Linked Data

• dbSNP Id: rs746310436
• ExAC: 10:50833586 T / G
• gnomAD v2: 10-50833586-T-G
• gnomAD v4: 10-49625540-T-G
• MyVariant Identifiers: chr10:g.50833586T>G (hg19) ; chr10:g.49625540T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49625540T>G , CM000672.2:g.49625540T>G	GRCh38
NC_000010.10:g.50833586T>G , CM000672.1:g.50833586T>G	GRCh37
NC_000010.9:g.50503592T>G	NCBI36
NG_011797.1:g.21446T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337653.7:c.820T>G MANE Select	ENSP00000337103.2:p.Tyr274Asp
ENST00000337653.6:c.820T>G	ENSP00000337103.2:p.Tyr274Asp
ENST00000339797.5:c.466T>G	ENSP00000343486.1:p.Tyr156Asp
ENST00000351556.7:c.466T>G	ENSP00000345878.3:p.Tyr156Asp
ENST00000395559.6:c.466T>G	ENSP00000378926.2:p.Tyr156Asp
ENST00000395562.2:c.574T>G	ENSP00000378929.2:p.Tyr192Asp
ENST00000466590.6:c.*551T>G	ENSP00000473443.1:n.*551T>G
NM_001142929.1:c.466T>G	NP_001136401.1:p.Tyr156Asp
NM_001142933.1:c.574T>G	NP_001136405.1:p.Tyr192Asp
NM_001142934.1:c.466T>G	NP_001136406.1:p.Tyr156Asp
NM_020549.4:c.820T>G	NP_065574.3:p.Tyr274Asp
NM_020984.3:c.466T>G	NP_066264.3:p.Tyr156Asp
NM_020985.3:c.466T>G	NP_066265.3:p.Tyr156Asp
NM_020986.3:c.466T>G	NP_066266.3:p.Tyr156Asp
NM_001142929.2:c.466T>G	NP_001136401.2:p.Tyr156Asp
NM_001142933.2:c.574T>G	NP_001136405.2:p.Tyr192Asp
NM_001142934.2:c.466T>G	NP_001136406.2:p.Tyr156Asp
NM_020549.5:c.820T>G MANE Select	NP_065574.4:p.Tyr274Asp
NM_020984.4:c.466T>G	NP_066264.4:p.Tyr156Asp
NM_020985.4:c.466T>G	NP_066265.4:p.Tyr156Asp
NM_020986.4:c.466T>G	NP_066266.4:p.Tyr156Asp