Canonical Allele Identifier: CA1908792585

Gene: SLC18A3 CHAT

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49610971_49610984delinsGTGGGAGCCCACCC , CM000672.2:g.49610971_49610984delinsGTGGGAGCCCACCC	GRCh38
NC_000010.10:g.50819017_50819030delinsGTGGGAGCCCACCC , CM000672.1:g.50819017_50819030delinsGTGGGAGCCCACCC	GRCh37
NC_000010.9:g.50489023_50489036delinsGTGGGAGCCCACCC	NCBI36
NG_011797.1:g.6877_6890delinsGTGGGAGCCCACCC
NG_053144.1:g.5671_5684delinsGTGGGAGCCCACCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374115.5:c.231_244delinsGTGGGAGCCCACCC (SLC18A3) MANE Select	ENSP00000363229.3:p.Val77=
ENST00000339797.5:c.-69+1772_-69+1785delinsGTGGGAGCCCACCC (CHAT)	ENSP00000343486.1:n.-69+1772_-69+1785delinsGTGGGAGCCCACCC
ENST00000374115.4:c.231_244delinsGTGGGAGCCCACCC (SLC18A3)	ENSP00000363229.3:p.Val77=
NM_003055.2:c.231_244delinsGTGGGAGCCCACCC (SLC18A3)	NP_003046.2:p.Val77=
NM_020984.3:c.-69+1772_-69+1785delinsGTGGGAGCCCACCC (CHAT)	NP_066264.3:n.-69+1772_-69+1785delinsGTGGGAGCCCACCC
NM_003055.3:c.231_244delinsGTGGGAGCCCACCC (SLC18A3) MANE Select	NP_003046.2:p.Val77=
NM_020984.4:c.-69+1772_-69+1785delinsGTGGGAGCCCACCC (CHAT)	NP_066264.4:n.-69+1772_-69+1785delinsGTGGGAGCCCACCC