Canonical Allele Identifier: CA469791420
Gene: SLC18A3 HGNC NCBI
CHAT HGNC NCBI

Linked Data

gnomAD v4: 10-49611736-G-A
MyVariant Identifiers: chr10:g.50819782G>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49611736G>A , CM000672.2:g.49611736G>A GRCh38
NC_000010.10:g.50819782G>A , CM000672.1:g.50819782G>A GRCh37
NC_000010.9:g.50489788G>A NCBI36
NG_011797.1:g.7642G>A
NG_053144.1:g.6436G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374115.5:c.996G>A (SLC18A3) MANE Select ENSP00000363229.3:p.Leu332=
ENST00000339797.5:c.-69+2537G>A (CHAT) ENSP00000343486.1:n.-69+2537G>A
ENST00000374115.4:c.996G>A (SLC18A3) ENSP00000363229.3:p.Leu332=
NM_003055.2:c.996G>A (SLC18A3) NP_003046.2:p.Leu332=
NM_020984.3:c.-69+2537G>A (CHAT) NP_066264.3:n.-69+2537G>A
NM_003055.3:c.996G>A (SLC18A3) MANE Select NP_003046.2:p.Leu332=
NM_020984.4:c.-69+2537G>A (CHAT) NP_066264.4:n.-69+2537G>A
Search 100 bp 5'
Search 100 bp 3'