Canonical Allele Identifier: CA469790890

Gene: SLC18A3 CHAT

Linked Data

• gnomAD v4: 10-49610803-G-C
• MyVariant Identifiers: chr10:g.50818849G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49610803G>C , CM000672.2:g.49610803G>C	GRCh38
NC_000010.10:g.50818849G>C , CM000672.1:g.50818849G>C	GRCh37
NC_000010.9:g.50488855G>C	NCBI36
NG_011797.1:g.6709G>C
NG_053144.1:g.5503G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374115.5:c.63G>C (SLC18A3) MANE Select	ENSP00000363229.3:p.Val21=
ENST00000339797.5:c.-69+1604G>C (CHAT)	ENSP00000343486.1:n.-69+1604G>C
ENST00000374115.4:c.63G>C (SLC18A3)	ENSP00000363229.3:p.Val21=
NM_003055.2:c.63G>C (SLC18A3)	NP_003046.2:p.Val21=
NM_020984.3:c.-69+1604G>C (CHAT)	NP_066264.3:n.-69+1604G>C
NM_003055.3:c.63G>C (SLC18A3) MANE Select	NP_003046.2:p.Val21=
NM_020984.4:c.-69+1604G>C (CHAT)	NP_066264.4:n.-69+1604G>C