Canonical Allele Identifier: CA112964190
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs550326227
gnomAD v2: 5-1416061-G-A
gnomAD v3: 5-1415946-G-A
gnomAD v4: 5-1415946-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1415946G>A , CM000667.2:g.1415946G>A GRCh38
NC_000005.9:g.1416061G>A , CM000667.1:g.1416061G>A GRCh37
NC_000005.8:g.1469061G>A NCBI36
NG_015885.1:g.34483C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000270349.12:c.1031+152C>T MANE Select ENSP00000270349.9:n.1031+152C>T
ENST00000270349.11:c.1031+152C>T ENSP00000270349.9:n.1031+152C>T
ENST00000511750.1:n.481+152C>T
NM_001044.4:c.1031+152C>T NP_001035.1:n.1031+152C>T
NM_001044.5:c.1031+152C>T MANE Select NP_001035.1:n.1031+152C>T