Canonical Allele Identifier: CA469791869

Gene: SLC18A3 CHAT

Linked Data

• dbSNP Id: rs760173383
• gnomAD v2: 10-50819536-C-G
• gnomAD v4: 10-49611490-C-G
• MyVariant Identifiers: chr10:g.50819536C>G (hg19) ; chr10:g.49611490C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49611490C>G , CM000672.2:g.49611490C>G	GRCh38
NC_000010.10:g.50819536C>G , CM000672.1:g.50819536C>G	GRCh37
NC_000010.9:g.50489542C>G	NCBI36
NG_011797.1:g.7396C>G
NG_053144.1:g.6190C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374115.5:c.750C>G (SLC18A3) MANE Select	ENSP00000363229.3:p.Ala250=
ENST00000339797.5:c.-69+2291C>G (CHAT)	ENSP00000343486.1:n.-69+2291C>G
ENST00000374115.4:c.750C>G (SLC18A3)	ENSP00000363229.3:p.Ala250=
NM_003055.2:c.750C>G (SLC18A3)	NP_003046.2:p.Ala250=
NM_020984.3:c.-69+2291C>G (CHAT)	NP_066264.3:n.-69+2291C>G
NM_003055.3:c.750C>G (SLC18A3) MANE Select	NP_003046.2:p.Ala250=
NM_020984.4:c.-69+2291C>G (CHAT)	NP_066264.4:n.-69+2291C>G