Canonical Allele Identifier: CA3186143

Gene: SLC6A3

Linked Data

• ClinVar Variation Id: 538065
• ClinVar RCV Id: RCV000647218 ; RCV002507109 ; RCV002530487 ; RCV003437366
• dbSNP Id: rs145114326
• ExAC: 5:1414807 G / A
• gnomAD v2: 5-1414807-G-A
• gnomAD v3: 5-1414692-G-A
• gnomAD v4: 5-1414692-G-A
• MyVariant Identifiers: chr5:g.1414807G>A (hg19) ; chr5:g.1414692G>A (hg38)
• PubMed: PMID:28135719

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414692G>A , CM000667.2:g.1414692G>A	GRCh38
NC_000005.9:g.1414807G>A , CM000667.1:g.1414807G>A	GRCh37
NC_000005.8:g.1467807G>A	NCBI36
NG_015885.1:g.35737C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.1155C>T MANE Select	ENSP00000270349.9:p.Asp385=
ENST00000270349.11:c.1155C>T	ENSP00000270349.9:p.Asp385=
NM_001044.4:c.1155C>T	NP_001035.1:p.Asp385=
NM_001044.5:c.1155C>T MANE Select	NP_001035.1:p.Asp385=