Canonical Allele Identifier: CA112961485
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs539188285
gnomAD v3: 5-1410955-T-A
gnomAD v4: 5-1410955-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1410955T>A , CM000667.2:g.1410955T>A GRCh38
NC_000005.9:g.1411070T>A , CM000667.1:g.1411070T>A GRCh37
NC_000005.8:g.1464070T>A NCBI36
NG_015885.1:g.39474A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1269+288A>T MANE Select ENSP00000270349.9:n.1269+288A>T
ENST00000270349.11:c.1269+288A>T ENSP00000270349.9:n.1269+288A>T
NM_001044.4:c.1269+288A>T NP_001035.1:n.1269+288A>T
NM_001044.5:c.1269+288A>T MANE Select NP_001035.1:n.1269+288A>T