Canonical Allele Identifier: CA2590929050

Gene: SLC6A3

Linked Data

• dbSNP Id: rs2126376739
• gnomAD v3: 5-1423565-A-C
• gnomAD v4: 5-1423565-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1423565A>C , CM000667.2:g.1423565A>C	GRCh38
NC_000005.9:g.1423680A>C , CM000667.1:g.1423680A>C	GRCh37
NC_000005.8:g.1476680A>C	NCBI36
NG_015885.1:g.26864T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.654-1551T>G MANE Select	ENSP00000270349.9:n.654-1551T>G
ENST00000270349.11:c.654-1551T>G	ENSP00000270349.9:n.654-1551T>G
NM_001044.4:c.654-1551T>G	NP_001035.1:n.654-1551T>G
NM_001044.5:c.654-1551T>G MANE Select	NP_001035.1:n.654-1551T>G