Canonical Allele Identifier: CA1908795187
Gene: SLC18A3 HGNC NCBI
CHAT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49612012C= , CM000672.2:g.49612012C= GRCh38
NC_000010.10:g.50820058C= , CM000672.1:g.50820058C= GRCh37
NC_000010.9:g.50490064C= NCBI36
NG_011797.1:g.7918C=
NG_053144.1:g.6712C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000374115.5:c.1272C= (SLC18A3) MANE Select ENSP00000363229.3:p.Ala424=
ENST00000339797.5:c.-69+2813C= (CHAT) ENSP00000343486.1:n.-69+2813C=
ENST00000374115.4:c.1272C= (SLC18A3) ENSP00000363229.3:p.Ala424=
NM_003055.2:c.1272C= (SLC18A3) NP_003046.2:p.Ala424=
NM_020984.3:c.-69+2813C= (CHAT) NP_066264.3:n.-69+2813C=
NM_003055.3:c.1272C= (SLC18A3) MANE Select NP_003046.2:p.Ala424=
NM_020984.4:c.-69+2813C= (CHAT) NP_066264.4:n.-69+2813C=