Canonical Allele Identifier: CA2673095777
Gene: SLC6A3 HGNC NCBI

Linked Data

gnomAD v4: 5-1416049-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1416049C>A , CM000667.2:g.1416049C>A GRCh38
NC_000005.9:g.1416164C>A , CM000667.1:g.1416164C>A GRCh37
NC_000005.8:g.1469164C>A NCBI36
NG_015885.1:g.34380G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1031+49G>T MANE Select ENSP00000270349.9:n.1031+49G>T
ENST00000270349.11:c.1031+49G>T ENSP00000270349.9:n.1031+49G>T
ENST00000511750.1:n.481+49G>T
NM_001044.4:c.1031+49G>T NP_001035.1:n.1031+49G>T
NM_001044.5:c.1031+49G>T MANE Select NP_001035.1:n.1031+49G>T