Canonical Allele Identifier: CA1908834818
Gene: CHAT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49655488C= , CM000672.2:g.49655488C= GRCh38
NC_000010.10:g.50863534C= , CM000672.1:g.50863534C= GRCh37
NC_000010.9:g.50533540C= NCBI36
NG_011797.1:g.51394C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000337653.7:c.1839+40C= MANE Select ENSP00000337103.2:n.1839+40C=
ENST00000638282.1:c.*676+40C= ENSP00000492646.1:n.*676+40C=
ENST00000638683.1:n.476+40C=
ENST00000640822.1:c.702+40C= ENSP00000491328.1:n.702+40C=
ENST00000337653.6:c.1839+40C= ENSP00000337103.2:n.1839+40C=
ENST00000339797.5:c.1485+40C= ENSP00000343486.1:n.1485+40C=
ENST00000351556.7:c.1485+40C= ENSP00000345878.3:n.1485+40C=
ENST00000395559.6:c.1485+40C= ENSP00000378926.2:n.1485+40C=
ENST00000395562.2:c.1593+40C= ENSP00000378929.2:n.1593+40C=
ENST00000466590.6:c.*1570+40C= ENSP00000473443.1:n.*1570+40C=
NM_001142929.1:c.1485+40C= NP_001136401.1:n.1485+40C=
NM_001142933.1:c.1593+40C= NP_001136405.1:n.1593+40C=
NM_001142934.1:c.1485+40C= NP_001136406.1:n.1485+40C=
NM_020549.4:c.1839+40C= NP_065574.3:n.1839+40C=
NM_020984.3:c.1485+40C= NP_066264.3:n.1485+40C=
NM_020985.3:c.1485+40C= NP_066265.3:n.1485+40C=
NM_020986.3:c.1485+40C= NP_066266.3:n.1485+40C=
NM_001142929.2:c.1485+40C= NP_001136401.2:n.1485+40C=
NM_001142933.2:c.1593+40C= NP_001136405.2:n.1593+40C=
NM_001142934.2:c.1485+40C= NP_001136406.2:n.1485+40C=
NM_020549.5:c.1839+40C= MANE Select NP_065574.4:n.1839+40C=
NM_020984.4:c.1485+40C= NP_066264.4:n.1485+40C=
NM_020985.4:c.1485+40C= NP_066265.4:n.1485+40C=
NM_020986.4:c.1485+40C= NP_066266.4:n.1485+40C=