Canonical Allele Identifier: CA658657960

Gene: SLC18A3 CHAT

Linked Data

• ClinVar Variation Id: 451558
• ClinVar RCV Id: RCV000523324
• dbSNP Id: rs1554800550
• MyVariant Identifiers: chr10:g.50819133del (hg19) ; chr10:g.49611087del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49611087del , CM000672.2:g.49611087del	GRCh38
NC_000010.10:g.50819133del , CM000672.1:g.50819133del	GRCh37
NC_000010.9:g.50489139del	NCBI36
NG_011797.1:g.6993del
NG_053144.1:g.5787del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374115.5:c.347del (SLC18A3) MANE Select	ENSP00000363229.3:p.Pro116LeufsTer7
ENST00000339797.5:c.-69+1888del (CHAT)	ENSP00000343486.1:n.-69+1888del
ENST00000374115.4:c.347del (SLC18A3)	ENSP00000363229.3:p.Pro116LeufsTer7
NM_003055.2:c.347del (SLC18A3)	NP_003046.2:p.Pro116LeufsTer7
NM_020984.3:c.-69+1888del (CHAT)	NP_066264.3:n.-69+1888del
NM_003055.3:c.347del (SLC18A3) MANE Select	NP_003046.2:p.Pro116LeufsTer7
NM_020984.4:c.-69+1888del (CHAT)	NP_066264.4:n.-69+1888del