Canonical Allele Identifier: CA5496890
Gene: SLC18A3 HGNC NCBI
CHAT HGNC NCBI

Linked Data

dbSNP Id: rs755666285

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49611777T>C , CM000672.2:g.49611777T>C GRCh38
NC_000010.10:g.50819823T>C , CM000672.1:g.50819823T>C GRCh37
NC_000010.9:g.50489829T>C NCBI36
NG_011797.1:g.7683T>C
NG_053144.1:g.6477T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000374115.5:c.1037T>C (SLC18A3) MANE Select ENSP00000363229.3:p.Val346Ala
ENST00000339797.5:c.-69+2578T>C (CHAT) ENSP00000343486.1:n.-69+2578T>C
ENST00000374115.4:c.1037T>C (SLC18A3) ENSP00000363229.3:p.Val346Ala
NM_003055.2:c.1037T>C (SLC18A3) NP_003046.2:p.Val346Ala
NM_020984.3:c.-69+2578T>C (CHAT) NP_066264.3:n.-69+2578T>C
NM_003055.3:c.1037T>C (SLC18A3) MANE Select NP_003046.2:p.Val346Ala
NM_020984.4:c.-69+2578T>C (CHAT) NP_066264.4:n.-69+2578T>C