Canonical Allele Identifier: CA5496894

Gene: SLC18A3 CHAT

Linked Data

• dbSNP Id: rs770647433
• ExAC: 10:50819847 A / C
• gnomAD v2: 10-50819847-A-C
• gnomAD v3: 10-49611801-A-C
• gnomAD v4: 10-49611801-A-C
• MyVariant Identifiers: chr10:g.50819847A>C (hg19) ; chr10:g.49611801A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49611801A>C , CM000672.2:g.49611801A>C	GRCh38
NC_000010.10:g.50819847A>C , CM000672.1:g.50819847A>C	GRCh37
NC_000010.9:g.50489853A>C	NCBI36
NG_011797.1:g.7707A>C
NG_053144.1:g.6501A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374115.5:c.1061A>C (SLC18A3) MANE Select	ENSP00000363229.3:p.His354Pro
ENST00000339797.5:c.-69+2602A>C (CHAT)	ENSP00000343486.1:n.-69+2602A>C
ENST00000374115.4:c.1061A>C (SLC18A3)	ENSP00000363229.3:p.His354Pro
NM_003055.2:c.1061A>C (SLC18A3)	NP_003046.2:p.His354Pro
NM_020984.3:c.-69+2602A>C (CHAT)	NP_066264.3:n.-69+2602A>C
NM_003055.3:c.1061A>C (SLC18A3) MANE Select	NP_003046.2:p.His354Pro
NM_020984.4:c.-69+2602A>C (CHAT)	NP_066264.4:n.-69+2602A>C