Canonical Allele Identifier: CA469605086

Gene: CHAT

Linked Data

• ClinVar Variation Id: 2996410
• ClinVar RCV Id: RCV003856561
• dbSNP Id: rs1838886734
• gnomAD v3: 10-49625542-T-C
• gnomAD v4: 10-49625542-T-C
• MyVariant Identifiers: chr10:g.50833588T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49625542T>C , CM000672.2:g.49625542T>C	GRCh38
NC_000010.10:g.50833588T>C , CM000672.1:g.50833588T>C	GRCh37
NC_000010.9:g.50503594T>C	NCBI36
NG_011797.1:g.21448T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337653.7:c.822T>C MANE Select	ENSP00000337103.2:p.Tyr274=
ENST00000337653.6:c.822T>C	ENSP00000337103.2:p.Tyr274=
ENST00000339797.5:c.468T>C	ENSP00000343486.1:p.Tyr156=
ENST00000351556.7:c.468T>C	ENSP00000345878.3:p.Tyr156=
ENST00000395559.6:c.468T>C	ENSP00000378926.2:p.Tyr156=
ENST00000395562.2:c.576T>C	ENSP00000378929.2:p.Tyr192=
ENST00000466590.6:c.*553T>C	ENSP00000473443.1:n.*553T>C
NM_001142929.1:c.468T>C	NP_001136401.1:p.Tyr156=
NM_001142933.1:c.576T>C	NP_001136405.1:p.Tyr192=
NM_001142934.1:c.468T>C	NP_001136406.1:p.Tyr156=
NM_020549.4:c.822T>C	NP_065574.3:p.Tyr274=
NM_020984.3:c.468T>C	NP_066264.3:p.Tyr156=
NM_020985.3:c.468T>C	NP_066265.3:p.Tyr156=
NM_020986.3:c.468T>C	NP_066266.3:p.Tyr156=
NM_001142929.2:c.468T>C	NP_001136401.2:p.Tyr156=
NM_001142933.2:c.576T>C	NP_001136405.2:p.Tyr192=
NM_001142934.2:c.468T>C	NP_001136406.2:p.Tyr156=
NM_020549.5:c.822T>C MANE Select	NP_065574.4:p.Tyr274=
NM_020984.4:c.468T>C	NP_066264.4:p.Tyr156=
NM_020985.4:c.468T>C	NP_066265.4:p.Tyr156=
NM_020986.4:c.468T>C	NP_066266.4:p.Tyr156=