Canonical Allele Identifier: CA376742478
Gene: CHAT HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49648546G>T , CM000672.2:g.49648546G>T GRCh38
NC_000010.10:g.50856592G>T , CM000672.1:g.50856592G>T GRCh37
NC_000010.9:g.50526598G>T NCBI36
NG_011797.1:g.44452G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000337653.7:c.1321G>T MANE Select ENSP00000337103.2:p.Glu441Ter
ENST00000638282.1:c.*158G>T ENSP00000492646.1:n.*158G>T
ENST00000640822.1:c.184G>T ENSP00000491328.1:p.Glu62Ter
ENST00000337653.6:c.1321G>T ENSP00000337103.2:p.Glu441Ter
ENST00000339797.5:c.967G>T ENSP00000343486.1:p.Glu323Ter
ENST00000351556.7:c.967G>T ENSP00000345878.3:p.Glu323Ter
ENST00000395559.6:c.967G>T ENSP00000378926.2:p.Glu323Ter
ENST00000395562.2:c.1075G>T ENSP00000378929.2:p.Glu359Ter
ENST00000466590.6:c.*1052G>T ENSP00000473443.1:n.*1052G>T
NM_001142929.1:c.967G>T NP_001136401.1:p.Glu323Ter
NM_001142933.1:c.1075G>T NP_001136405.1:p.Glu359Ter
NM_001142934.1:c.967G>T NP_001136406.1:p.Glu323Ter
NM_020549.4:c.1321G>T NP_065574.3:p.Glu441Ter
NM_020984.3:c.967G>T NP_066264.3:p.Glu323Ter
NM_020985.3:c.967G>T NP_066265.3:p.Glu323Ter
NM_020986.3:c.967G>T NP_066266.3:p.Glu323Ter
NM_001142929.2:c.967G>T NP_001136401.2:p.Glu323Ter
NM_001142933.2:c.1075G>T NP_001136405.2:p.Glu359Ter
NM_001142934.2:c.967G>T NP_001136406.2:p.Glu323Ter
NM_020549.5:c.1321G>T MANE Select NP_065574.4:p.Glu441Ter
NM_020984.4:c.967G>T NP_066264.4:p.Glu323Ter
NM_020985.4:c.967G>T NP_066265.4:p.Glu323Ter
NM_020986.4:c.967G>T NP_066266.4:p.Glu323Ter
Search 100 bp 5'
Search 100 bp 3'