Canonical Allele Identifier: CA376715695
Gene: SLC18A3 HGNC NCBI
CHAT HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.50818878A>C (hg19) chr10:g.49610832A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49610832A>C , CM000672.2:g.49610832A>C GRCh38
NC_000010.10:g.50818878A>C , CM000672.1:g.50818878A>C GRCh37
NC_000010.9:g.50488884A>C NCBI36
NG_011797.1:g.6738A>C
NG_053144.1:g.5532A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000374115.5:c.92A>C (SLC18A3) MANE Select ENSP00000363229.3:p.Gln31Pro
ENST00000339797.5:c.-69+1633A>C (CHAT) ENSP00000343486.1:n.-69+1633A>C
ENST00000374115.4:c.92A>C (SLC18A3) ENSP00000363229.3:p.Gln31Pro
NM_003055.2:c.92A>C (SLC18A3) NP_003046.2:p.Gln31Pro
NM_020984.3:c.-69+1633A>C (CHAT) NP_066264.3:n.-69+1633A>C
NM_003055.3:c.92A>C (SLC18A3) MANE Select NP_003046.2:p.Gln31Pro
NM_020984.4:c.-69+1633A>C (CHAT) NP_066264.4:n.-69+1633A>C
Search 100 bp 5'
Search 100 bp 3'