Canonical Allele Identifier: CA1908792259

Gene: SLC18A3 CHAT

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49610838_49610839delinsGC , CM000672.2:g.49610838_49610839delinsGC	GRCh38
NC_000010.10:g.50818884_50818885delinsGC , CM000672.1:g.50818884_50818885delinsGC	GRCh37
NC_000010.9:g.50488890_50488891delinsGC	NCBI36
NG_011797.1:g.6744_6745delinsGC
NG_053144.1:g.5538_5539delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374115.5:c.98_99delinsGC (SLC18A3) MANE Select	ENSP00000363229.3:p.Arg33=
ENST00000339797.5:c.-69+1639_-69+1640delinsGC (CHAT)	ENSP00000343486.1:n.-69+1639_-69+1640delinsGC
ENST00000374115.4:c.98_99delinsGC (SLC18A3)	ENSP00000363229.3:p.Arg33=
NM_003055.2:c.98_99delinsGC (SLC18A3)	NP_003046.2:p.Arg33=
NM_020984.3:c.-69+1639_-69+1640delinsGC (CHAT)	NP_066264.3:n.-69+1639_-69+1640delinsGC
NM_003055.3:c.98_99delinsGC (SLC18A3) MANE Select	NP_003046.2:p.Arg33=
NM_020984.4:c.-69+1639_-69+1640delinsGC (CHAT)	NP_066264.4:n.-69+1639_-69+1640delinsGC