Canonical Allele Identifier: CA2590929013

Gene: SLC6A3

Linked Data

• dbSNP Id: rs2126350876
• gnomAD v3: 5-1414290-C-T
• gnomAD v4: 5-1414290-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414290C>T , CM000667.2:g.1414290C>T	GRCh38
NC_000005.9:g.1414405C>T , CM000667.1:g.1414405C>T	GRCh37
NC_000005.8:g.1467405C>T	NCBI36
NG_015885.1:g.36139G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.1156+401G>A MANE Select	ENSP00000270349.9:n.1156+401G>A
ENST00000270349.11:c.1156+401G>A	ENSP00000270349.9:n.1156+401G>A
NM_001044.4:c.1156+401G>A	NP_001035.1:n.1156+401G>A
NM_001044.5:c.1156+401G>A MANE Select	NP_001035.1:n.1156+401G>A