Canonical Allele Identifier: CA1072526093

Gene: SLC6A3

Linked Data

• dbSNP Id: rs1560913028
• gnomAD v3: 5-1414490-G-GCC
• gnomAD v4: 5-1414490-G-GCC

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414490_1414491insCC , CM000667.2:g.1414490_1414491insCC	GRCh38
NC_000005.9:g.1414605_1414606insCC , CM000667.1:g.1414605_1414606insCC	GRCh37
NC_000005.8:g.1467605_1467606insCC	NCBI36
NG_015885.1:g.35938_35939insGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.1156+200_1156+201insGG MANE Select	ENSP00000270349.9:n.1156+200_1156+201insGG
ENST00000270349.11:c.1156+200_1156+201insGG	ENSP00000270349.9:n.1156+200_1156+201insGG
NM_001044.4:c.1156+200_1156+201insGG	NP_001035.1:n.1156+200_1156+201insGG
NM_001044.5:c.1156+200_1156+201insGG MANE Select	NP_001035.1:n.1156+200_1156+201insGG