Canonical Allele Identifier: CA1072525864

Gene: SLC6A3

Linked Data

• gnomAD v3: 5-1414479-G-GA
• gnomAD v4: 5-1414479-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414479_1414480insA , CM000667.2:g.1414479_1414480insA	GRCh38
NC_000005.9:g.1414594_1414595insA , CM000667.1:g.1414594_1414595insA	GRCh37
NC_000005.8:g.1467594_1467595insA	NCBI36
NG_015885.1:g.35949_35950insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.1156+211_1156+212insT MANE Select	ENSP00000270349.9:n.1156+211_1156+212insT
ENST00000270349.11:c.1156+211_1156+212insT	ENSP00000270349.9:n.1156+211_1156+212insT
NM_001044.4:c.1156+211_1156+212insT	NP_001035.1:n.1156+211_1156+212insT
NM_001044.5:c.1156+211_1156+212insT MANE Select	NP_001035.1:n.1156+211_1156+212insT