Canonical Allele Identifier: CA1522637683

Gene: SLC6A3

Linked Data

• dbSNP Id: rs1166588939
• gnomAD v4: 5-1415951-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1415951C>G , CM000667.2:g.1415951C>G	GRCh38
NC_000005.9:g.1416066C>G , CM000667.1:g.1416066C>G	GRCh37
NC_000005.8:g.1469066C>G	NCBI36
NG_015885.1:g.34478G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000270349.12:c.1031+147G>C MANE Select	ENSP00000270349.9:n.1031+147G>C
ENST00000270349.11:c.1031+147G>C	ENSP00000270349.9:n.1031+147G>C
ENST00000511750.1:n.481+147G>C
NM_001044.4:c.1031+147G>C	NP_001035.1:n.1031+147G>C
NM_001044.5:c.1031+147G>C MANE Select	NP_001035.1:n.1031+147G>C