Canonical Allele Identifier: CA3186352

Gene: SLC6A3

Linked Data

• ClinVar Variation Id: 377082
• ClinVar RCV Id: RCV000422809 ; RCV000647221 ; RCV000765817 ; RCV001084900 ; RCV003902467
• dbSNP Id: rs71653633
• ExAC: 5:1432733 G / A
• gnomAD v2: 5-1432733-G-A
• gnomAD v3: 5-1432618-G-A
• gnomAD v4: 5-1432618-G-A
• MyVariant Identifiers: chr5:g.1432733G>A (hg19) ; chr5:g.1432618G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1432618G>A , CM000667.2:g.1432618G>A	GRCh38
NC_000005.9:g.1432733G>A , CM000667.1:g.1432733G>A	GRCh37
NC_000005.8:g.1485733G>A	NCBI36
NG_015885.1:g.17811C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.499C>T MANE Select	ENSP00000270349.9:p.Leu167Phe
ENST00000270349.11:c.499C>T	ENSP00000270349.9:p.Leu167Phe
NM_001044.4:c.499C>T	NP_001035.1:p.Leu167Phe
NM_001044.5:c.499C>T MANE Select	NP_001035.1:p.Leu167Phe