Canonical Allele Identifier: CA1908793066
Gene: SLC18A3 HGNC NCBI
CHAT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49611153T= , CM000672.2:g.49611153T= GRCh38
NC_000010.10:g.50819199T= , CM000672.1:g.50819199T= GRCh37
NC_000010.9:g.50489205T= NCBI36
NG_011797.1:g.7059T=
NG_053144.1:g.5853T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000374115.5:c.413T= (SLC18A3) MANE Select ENSP00000363229.3:p.Val138=
ENST00000339797.5:c.-69+1954T= (CHAT) ENSP00000343486.1:n.-69+1954T=
ENST00000374115.4:c.413T= (SLC18A3) ENSP00000363229.3:p.Val138=
NM_003055.2:c.413T= (SLC18A3) NP_003046.2:p.Val138=
NM_020984.3:c.-69+1954T= (CHAT) NP_066264.3:n.-69+1954T=
NM_003055.3:c.413T= (SLC18A3) MANE Select NP_003046.2:p.Val138=
NM_020984.4:c.-69+1954T= (CHAT) NP_066264.4:n.-69+1954T=