Canonical Allele Identifier: CA1908792349

Gene: SLC18A3 CHAT

Linked Data

• dbSNP Id: rs1838274929
• gnomAD v4: 10-49610886-T-TGTCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49610888_49610889insCCAGT , CM000672.2:g.49610888_49610889insCCAGT	GRCh38
NC_000010.10:g.50818934_50818935insCCAGT , CM000672.1:g.50818934_50818935insCCAGT	GRCh37
NC_000010.9:g.50488940_50488941insCCAGT	NCBI36
NG_011797.1:g.6794_6795insCCAGT
NG_053144.1:g.5588_5589insCCAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374115.5:c.148_149insCCAGT (SLC18A3) MANE Select	ENSP00000363229.3:p.Tyr50SerfsTer9
ENST00000339797.5:c.-69+1689_-69+1690insCCAGT (CHAT)	ENSP00000343486.1:n.-69+1689_-69+1690insCCAGT
ENST00000374115.4:c.148_149insCCAGT (SLC18A3)	ENSP00000363229.3:p.Tyr50SerfsTer9
NM_003055.2:c.148_149insCCAGT (SLC18A3)	NP_003046.2:p.Tyr50SerfsTer9
NM_020984.3:c.-69+1689_-69+1690insCCAGT (CHAT)	NP_066264.3:n.-69+1689_-69+1690insCCAGT
NM_003055.3:c.148_149insCCAGT (SLC18A3) MANE Select	NP_003046.2:p.Tyr50SerfsTer9
NM_020984.4:c.-69+1689_-69+1690insCCAGT (CHAT)	NP_066264.4:n.-69+1689_-69+1690insCCAGT