Canonical Allele Identifier: CA376715472

Gene: SLC18A3 CHAT

Linked Data

• MyVariant Identifiers: chr10:g.50818844G>C (hg19) ; chr10:g.49610798G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49610798G>C , CM000672.2:g.49610798G>C	GRCh38
NC_000010.10:g.50818844G>C , CM000672.1:g.50818844G>C	GRCh37
NC_000010.9:g.50488850G>C	NCBI36
NG_011797.1:g.6704G>C
NG_053144.1:g.5498G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374115.5:c.58G>C (SLC18A3) MANE Select	ENSP00000363229.3:p.Ala20Pro
ENST00000339797.5:c.-69+1599G>C (CHAT)	ENSP00000343486.1:n.-69+1599G>C
ENST00000374115.4:c.58G>C (SLC18A3)	ENSP00000363229.3:p.Ala20Pro
NM_003055.2:c.58G>C (SLC18A3)	NP_003046.2:p.Ala20Pro
NM_020984.3:c.-69+1599G>C (CHAT)	NP_066264.3:n.-69+1599G>C
NM_003055.3:c.58G>C (SLC18A3) MANE Select	NP_003046.2:p.Ala20Pro
NM_020984.4:c.-69+1599G>C (CHAT)	NP_066264.4:n.-69+1599G>C