Canonical Allele Identifier: CA469791852

Gene: SLC18A3 CHAT

Linked Data

• gnomAD v4: 10-49611484-A-C
• MyVariant Identifiers: chr10:g.50819530A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49611484A>C , CM000672.2:g.49611484A>C	GRCh38
NC_000010.10:g.50819530A>C , CM000672.1:g.50819530A>C	GRCh37
NC_000010.9:g.50489536A>C	NCBI36
NG_011797.1:g.7390A>C
NG_053144.1:g.6184A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374115.5:c.744A>C (SLC18A3) MANE Select	ENSP00000363229.3:p.Leu248=
ENST00000339797.5:c.-69+2285A>C (CHAT)	ENSP00000343486.1:n.-69+2285A>C
ENST00000374115.4:c.744A>C (SLC18A3)	ENSP00000363229.3:p.Leu248=
NM_003055.2:c.744A>C (SLC18A3)	NP_003046.2:p.Leu248=
NM_020984.3:c.-69+2285A>C (CHAT)	NP_066264.3:n.-69+2285A>C
NM_003055.3:c.744A>C (SLC18A3) MANE Select	NP_003046.2:p.Leu248=
NM_020984.4:c.-69+2285A>C (CHAT)	NP_066264.4:n.-69+2285A>C