Canonical Allele Identifier: CA5496844
Gene: SLC18A3 HGNC NCBI
CHAT HGNC NCBI

Linked Data

dbSNP Id: rs778186855
ExAC: 10:50819597 CG / C
gnomAD v2: 10-50819597-CG-C
gnomAD v4: 10-49611551-CG-C
MyVariant Identifiers: chr10:g.50819598del (hg19) chr10:g.49611552del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49611554del , CM000672.2:g.49611554del GRCh38
NC_000010.10:g.50819600del , CM000672.1:g.50819600del GRCh37
NC_000010.9:g.50489606del NCBI36
NG_011797.1:g.7460del
NG_053144.1:g.6254del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374115.5:c.814del (SLC18A3) MANE Select ENSP00000363229.3:p.Ala272LeufsTer16
ENST00000339797.5:c.-69+2355del (CHAT) ENSP00000343486.1:n.-69+2355del
ENST00000374115.4:c.814del (SLC18A3) ENSP00000363229.3:p.Ala272LeufsTer16
NM_003055.2:c.814del (SLC18A3) NP_003046.2:p.Ala272LeufsTer16
NM_020984.3:c.-69+2355del (CHAT) NP_066264.3:n.-69+2355del
NM_003055.3:c.814del (SLC18A3) MANE Select NP_003046.2:p.Ala272LeufsTer16
NM_020984.4:c.-69+2355del (CHAT) NP_066264.4:n.-69+2355del
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