Canonical Allele Identifier: CA2673095783
Gene: SLC6A3 HGNC NCBI

Linked Data

gnomAD v4: 5-1416058-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1416058G>A , CM000667.2:g.1416058G>A GRCh38
NC_000005.9:g.1416173G>A , CM000667.1:g.1416173G>A GRCh37
NC_000005.8:g.1469173G>A NCBI36
NG_015885.1:g.34371C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1031+40C>T MANE Select ENSP00000270349.9:n.1031+40C>T
ENST00000270349.11:c.1031+40C>T ENSP00000270349.9:n.1031+40C>T
ENST00000511750.1:n.481+40C>T
NM_001044.4:c.1031+40C>T NP_001035.1:n.1031+40C>T
NM_001044.5:c.1031+40C>T MANE Select NP_001035.1:n.1031+40C>T