Canonical Allele Identifier: CA257996
Gene: CHAT HGNC NCBI

Linked Data

ClinVar Variation Id: 17513
dbSNP Id: rs75466054

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49625634T>C , CM000672.2:g.49625634T>C GRCh38
NC_000010.10:g.50833680T>C , CM000672.1:g.50833680T>C GRCh37
NC_000010.9:g.50503686T>C NCBI36
NG_011797.1:g.21540T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000337653.7:c.914T>C MANE Select ENSP00000337103.2:p.Ile305Thr
ENST00000337653.6:c.914T>C ENSP00000337103.2:p.Ile305Thr
ENST00000339797.5:c.560T>C ENSP00000343486.1:p.Ile187Thr
ENST00000351556.7:c.560T>C ENSP00000345878.3:p.Ile187Thr
ENST00000395559.6:c.560T>C ENSP00000378926.2:p.Ile187Thr
ENST00000395562.2:c.668T>C ENSP00000378929.2:p.Ile223Thr
ENST00000466590.6:c.*645T>C ENSP00000473443.1:n.*645T>C
NM_001142929.1:c.560T>C NP_001136401.1:p.Ile187Thr
NM_001142933.1:c.668T>C NP_001136405.1:p.Ile223Thr
NM_001142934.1:c.560T>C NP_001136406.1:p.Ile187Thr
NM_020549.4:c.914T>C NP_065574.3:p.Ile305Thr
NM_020984.3:c.560T>C NP_066264.3:p.Ile187Thr
NM_020985.3:c.560T>C NP_066265.3:p.Ile187Thr
NM_020986.3:c.560T>C NP_066266.3:p.Ile187Thr
NM_001142929.2:c.560T>C NP_001136401.2:p.Ile187Thr
NM_001142933.2:c.668T>C NP_001136405.2:p.Ile223Thr
NM_001142934.2:c.560T>C NP_001136406.2:p.Ile187Thr
NM_020549.5:c.914T>C MANE Select NP_065574.4:p.Ile305Thr
NM_020984.4:c.560T>C NP_066264.4:p.Ile187Thr
NM_020985.4:c.560T>C NP_066265.4:p.Ile187Thr
NM_020986.4:c.560T>C NP_066266.4:p.Ile187Thr