Canonical Allele Identifier: CA1908834684
Gene: CHAT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49655219C= , CM000672.2:g.49655219C= GRCh38
NC_000010.10:g.50863265C= , CM000672.1:g.50863265C= GRCh37
NC_000010.9:g.50533271C= NCBI36
NG_011797.1:g.51125C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000337653.7:c.1759C= MANE Select ENSP00000337103.2:p.His587=
ENST00000638282.1:c.*596C= ENSP00000492646.1:n.*596C=
ENST00000638683.1:n.396C=
ENST00000640822.1:c.622C= ENSP00000491328.1:p.His208=
ENST00000337653.6:c.1759C= ENSP00000337103.2:p.His587=
ENST00000339797.5:c.1405C= ENSP00000343486.1:p.His469=
ENST00000351556.7:c.1405C= ENSP00000345878.3:p.His469=
ENST00000395559.6:c.1405C= ENSP00000378926.2:p.His469=
ENST00000395562.2:c.1513C= ENSP00000378929.2:p.His505=
ENST00000466590.6:c.*1490C= ENSP00000473443.1:n.*1490C=
NM_001142929.1:c.1405C= NP_001136401.1:p.His469=
NM_001142933.1:c.1513C= NP_001136405.1:p.His505=
NM_001142934.1:c.1405C= NP_001136406.1:p.His469=
NM_020549.4:c.1759C= NP_065574.3:p.His587=
NM_020984.3:c.1405C= NP_066264.3:p.His469=
NM_020985.3:c.1405C= NP_066265.3:p.His469=
NM_020986.3:c.1405C= NP_066266.3:p.His469=
NM_001142929.2:c.1405C= NP_001136401.2:p.His469=
NM_001142933.2:c.1513C= NP_001136405.2:p.His505=
NM_001142934.2:c.1405C= NP_001136406.2:p.His469=
NM_020549.5:c.1759C= MANE Select NP_065574.4:p.His587=
NM_020984.4:c.1405C= NP_066264.4:p.His469=
NM_020985.4:c.1405C= NP_066265.4:p.His469=
NM_020986.4:c.1405C= NP_066266.4:p.His469=