Canonical Allele Identifier: CA5496816

Gene: SLC18A3 CHAT

Linked Data

• dbSNP Id: rs758829636
• ExAC: 10:50819457 GA / G
• gnomAD v2: 10-50819457-GA-G
• MyVariant Identifiers: chr10:g.50819458del (hg19) ; chr10:g.49611412del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49611413del , CM000672.2:g.49611413del	GRCh38
NC_000010.10:g.50819459del , CM000672.1:g.50819459del	GRCh37
NC_000010.9:g.50489465del	NCBI36
NG_011797.1:g.7319del
NG_053144.1:g.6113del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374115.5:c.673del (SLC18A3) MANE Select	ENSP00000363229.3:p.Ser225AlafsTer2
ENST00000339797.5:c.-69+2214del (CHAT)	ENSP00000343486.1:n.-69+2214del
ENST00000374115.4:c.673del (SLC18A3)	ENSP00000363229.3:p.Ser225AlafsTer2
NM_003055.2:c.673del (SLC18A3)	NP_003046.2:p.Ser225AlafsTer2
NM_020984.3:c.-69+2214del (CHAT)	NP_066264.3:n.-69+2214del
NM_003055.3:c.673del (SLC18A3) MANE Select	NP_003046.2:p.Ser225AlafsTer2
NM_020984.4:c.-69+2214del (CHAT)	NP_066264.4:n.-69+2214del