Canonical Allele Identifier: CA469791359

Gene: SLC18A3 CHAT

Linked Data

• dbSNP Id: rs1460003493
• gnomAD v2: 10-50819740-T-C
• gnomAD v4: 10-49611694-T-C
• MyVariant Identifiers: chr10:g.50819740T>C (hg19) ; chr10:g.49611694T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49611694T>C , CM000672.2:g.49611694T>C	GRCh38
NC_000010.10:g.50819740T>C , CM000672.1:g.50819740T>C	GRCh37
NC_000010.9:g.50489746T>C	NCBI36
NG_011797.1:g.7600T>C
NG_053144.1:g.6394T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374115.5:c.954T>C (SLC18A3) MANE Select	ENSP00000363229.3:p.His318=
ENST00000339797.5:c.-69+2495T>C (CHAT)	ENSP00000343486.1:n.-69+2495T>C
ENST00000374115.4:c.954T>C (SLC18A3)	ENSP00000363229.3:p.His318=
NM_003055.2:c.954T>C (SLC18A3)	NP_003046.2:p.His318=
NM_020984.3:c.-69+2495T>C (CHAT)	NP_066264.3:n.-69+2495T>C
NM_003055.3:c.954T>C (SLC18A3) MANE Select	NP_003046.2:p.His318=
NM_020984.4:c.-69+2495T>C (CHAT)	NP_066264.4:n.-69+2495T>C