Canonical Allele Identifier: CA1908799565
Community Standard Title: NM_020549.5(CHAT):c.914T= (p.Ile305=)
Gene: CHAT HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_020549.5:c.914T= MANE Select NP_065574.4:p.Ile305=
ENST00000337653.7:c.914T= MANE Select ENSP00000337103.2:p.Ile305=
NM_001142929.1:c.560T= NP_001136401.1:p.Ile187=
NM_001142929.2:c.560T= NP_001136401.2:p.Ile187=
NM_001142933.1:c.668T= NP_001136405.1:p.Ile223=
NM_001142933.2:c.668T= NP_001136405.2:p.Ile223=
NM_001142934.1:c.560T= NP_001136406.1:p.Ile187=
NM_001142934.2:c.560T= NP_001136406.2:p.Ile187=
NM_020549.4:c.914T= NP_065574.3:p.Ile305=
NM_020984.3:c.560T= NP_066264.3:p.Ile187=
NM_020984.4:c.560T= NP_066264.4:p.Ile187=
NM_020985.3:c.560T= NP_066265.3:p.Ile187=
NM_020985.4:c.560T= NP_066265.4:p.Ile187=
NM_020986.3:c.560T= NP_066266.3:p.Ile187=
NM_020986.4:c.560T= NP_066266.4:p.Ile187=
ENST00000337653.6:c.914T= ENSP00000337103.2:p.Ile305=
ENST00000339797.5:c.560T= ENSP00000343486.1:p.Ile187=
ENST00000351556.7:c.560T= ENSP00000345878.3:p.Ile187=
ENST00000395559.6:c.560T= ENSP00000378926.2:p.Ile187=
ENST00000395562.2:c.668T= ENSP00000378929.2:p.Ile223=
ENST00000466590.6:c.*645T= ENSP00000473443.1:n.*645T=