Canonical Allele Identifier: CA206620710

Gene: SLC18A3 CHAT

Linked Data

• dbSNP Id: rs926179691
• MyVariant Identifiers: chr10:g.50818834_50818843del (hg19) ; chr10:g.49610788_49610797del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49610793_49610802del , CM000672.2:g.49610793_49610802del	GRCh38
NC_000010.10:g.50818839_50818848del , CM000672.1:g.50818839_50818848del	GRCh37
NC_000010.9:g.50488845_50488854del	NCBI36
NG_011797.1:g.6699_6708del
NG_053144.1:g.5493_5502del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374115.5:c.53_62del (SLC18A3) MANE Select	ENSP00000363229.3:p.Ser18TrpfsTer?
ENST00000339797.5:c.-69+1594_-69+1603del (CHAT)	ENSP00000343486.1:n.-69+1594_-69+1603del
ENST00000374115.4:c.53_62del (SLC18A3)	ENSP00000363229.3:p.Ser18TrpfsTer?
NM_003055.2:c.53_62del (SLC18A3)	NP_003046.2:p.Ser18TrpfsTer?
NM_020984.3:c.-69+1594_-69+1603del (CHAT)	NP_066264.3:n.-69+1594_-69+1603del
NM_003055.3:c.53_62del (SLC18A3) MANE Select	NP_003046.2:p.Ser18TrpfsTer?
NM_020984.4:c.-69+1594_-69+1603del (CHAT)	NP_066264.4:n.-69+1594_-69+1603del