Allele Registry

Canonical Allele Identifier: CA275188

Gene: CHAT HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr10:g.49619755C>T

GRCh37 chr10:g.50827801C>T

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000177317

RCV003631091

ClinVar Variation:

196498

dbSNP:

794727516

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49619755C>T , CM000672.2:g.49619755C>T	GRCh38
NC_000010.10:g.50827801C>T , CM000672.1:g.50827801C>T	GRCh37
NC_000010.9:g.50497807C>T	NCBI36
NG_011797.1:g.15661C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337653.7:c.418C>T MANE Select	ENSP00000337103.2:p.Gln140Ter
ENST00000337653.6:c.418C>T	ENSP00000337103.2:p.Gln140Ter
ENST00000339797.5:c.64C>T	ENSP00000343486.1:p.Gln22Ter
ENST00000351556.7:c.64C>T	ENSP00000345878.3:p.Gln22Ter
ENST00000395559.6:c.64C>T	ENSP00000378926.2:p.Gln22Ter
ENST00000395562.2:c.172C>T	ENSP00000378929.2:p.Gln58Ter
ENST00000460699.5:n.399C>T
ENST00000466590.6:c.*149C>T	ENSP00000473443.1:n.*149C>T
ENST00000481336.5:n.216C>T
ENST00000490270.1:n.468C>T
NM_001142929.1:c.64C>T	NP_001136401.1:p.Gln22Ter
NM_001142933.1:c.172C>T	NP_001136405.1:p.Gln58Ter
NM_001142934.1:c.64C>T	NP_001136406.1:p.Gln22Ter
NM_020549.4:c.418C>T	NP_065574.3:p.Gln140Ter
NM_020984.3:c.64C>T	NP_066264.3:p.Gln22Ter
NM_020985.3:c.64C>T	NP_066265.3:p.Gln22Ter
NM_020986.3:c.64C>T	NP_066266.3:p.Gln22Ter
NM_001142929.2:c.64C>T	NP_001136401.2:p.Gln22Ter
NM_001142933.2:c.172C>T	NP_001136405.2:p.Gln58Ter
NM_001142934.2:c.64C>T	NP_001136406.2:p.Gln22Ter
NM_020549.5:c.418C>T MANE Select	NP_065574.4:p.Gln140Ter
NM_020984.4:c.64C>T	NP_066264.4:p.Gln22Ter
NM_020985.4:c.64C>T	NP_066265.4:p.Gln22Ter
NM_020986.4:c.64C>T	NP_066266.4:p.Gln22Ter

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