Canonical Allele Identifier: CA469790907

Gene: SLC18A3 CHAT

Linked Data

• dbSNP Id: rs1288731626
• gnomAD v4: 10-49610815-G-T
• MyVariant Identifiers: chr10:g.50818861G>T (hg19) ; chr10:g.49610815G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49610815G>T , CM000672.2:g.49610815G>T	GRCh38
NC_000010.10:g.50818861G>T , CM000672.1:g.50818861G>T	GRCh37
NC_000010.9:g.50488867G>T	NCBI36
NG_011797.1:g.6721G>T
NG_053144.1:g.5515G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374115.5:c.75G>T (SLC18A3) MANE Select	ENSP00000363229.3:p.Leu25=
ENST00000339797.5:c.-69+1616G>T (CHAT)	ENSP00000343486.1:n.-69+1616G>T
ENST00000374115.4:c.75G>T (SLC18A3)	ENSP00000363229.3:p.Leu25=
NM_003055.2:c.75G>T (SLC18A3)	NP_003046.2:p.Leu25=
NM_020984.3:c.-69+1616G>T (CHAT)	NP_066264.3:n.-69+1616G>T
NM_003055.3:c.75G>T (SLC18A3) MANE Select	NP_003046.2:p.Leu25=
NM_020984.4:c.-69+1616G>T (CHAT)	NP_066264.4:n.-69+1616G>T