Canonical Allele Identifier: CA1908794736

Gene: SLC18A3 CHAT

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49611796_49611801delinsCCCACA , CM000672.2:g.49611796_49611801delinsCCCACA	GRCh38
NC_000010.10:g.50819842_50819847delinsCCCACA , CM000672.1:g.50819842_50819847delinsCCCACA	GRCh37
NC_000010.9:g.50489848_50489853delinsCCCACA	NCBI36
NG_011797.1:g.7702_7707delinsCCCACA
NG_053144.1:g.6496_6501delinsCCCACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374115.5:c.1056_1061delinsCCCACA (SLC18A3) MANE Select	ENSP00000363229.3:p.Tyr352=
ENST00000339797.5:c.-69+2597_-69+2602delinsCCCACA (CHAT)	ENSP00000343486.1:n.-69+2597_-69+2602delinsCCCACA
ENST00000374115.4:c.1056_1061delinsCCCACA (SLC18A3)	ENSP00000363229.3:p.Tyr352=
NM_003055.2:c.1056_1061delinsCCCACA (SLC18A3)	NP_003046.2:p.Tyr352=
NM_020984.3:c.-69+2597_-69+2602delinsCCCACA (CHAT)	NP_066264.3:n.-69+2597_-69+2602delinsCCCACA
NM_003055.3:c.1056_1061delinsCCCACA (SLC18A3) MANE Select	NP_003046.2:p.Tyr352=
NM_020984.4:c.-69+2597_-69+2602delinsCCCACA (CHAT)	NP_066264.4:n.-69+2597_-69+2602delinsCCCACA