Canonical Allele Identifier: CA206621423

Gene: SLC18A3 CHAT

Linked Data

• dbSNP Id: rs1047297359
• gnomAD v2: 10-50819943-C-T
• gnomAD v4: 10-49611897-C-T
• MyVariant Identifiers: chr10:g.50819943C>T (hg19) ; chr10:g.49611897C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49611897C>T , CM000672.2:g.49611897C>T	GRCh38
NC_000010.10:g.50819943C>T , CM000672.1:g.50819943C>T	GRCh37
NC_000010.9:g.50489949C>T	NCBI36
NG_011797.1:g.7803C>T
NG_053144.1:g.6597C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374115.5:c.1157C>T (SLC18A3) MANE Select	ENSP00000363229.3:p.Ser386Leu
ENST00000339797.5:c.-69+2698C>T (CHAT)	ENSP00000343486.1:n.-69+2698C>T
ENST00000374115.4:c.1157C>T (SLC18A3)	ENSP00000363229.3:p.Ser386Leu
NM_003055.2:c.1157C>T (SLC18A3)	NP_003046.2:p.Ser386Leu
NM_020984.3:c.-69+2698C>T (CHAT)	NP_066264.3:n.-69+2698C>T
NM_003055.3:c.1157C>T (SLC18A3) MANE Select	NP_003046.2:p.Ser386Leu
NM_020984.4:c.-69+2698C>T (CHAT)	NP_066264.4:n.-69+2698C>T