Canonical Allele Identifier: CA1072521867
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1579709230
gnomAD v3: 5-1414382-C-A
gnomAD v4: 5-1414382-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414382C>A , CM000667.2:g.1414382C>A GRCh38
NC_000005.9:g.1414497C>A , CM000667.1:g.1414497C>A GRCh37
NC_000005.8:g.1467497C>A NCBI36
NG_015885.1:g.36047G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+309G>T MANE Select ENSP00000270349.9:n.1156+309G>T
ENST00000270349.11:c.1156+309G>T ENSP00000270349.9:n.1156+309G>T
NM_001044.4:c.1156+309G>T NP_001035.1:n.1156+309G>T
NM_001044.5:c.1156+309G>T MANE Select NP_001035.1:n.1156+309G>T