Canonical Allele Identifier: CA3185949

Gene: SLC6A3

Linked Data

• ClinVar Variation Id: 290889
• ClinVar RCV Id: RCV000525246 ; RCV000336306 ; RCV001808742 ; RCV002522038 ; RCV002252088
• dbSNP Id: rs28364997
• ExAC: 5:1403128 G / A
• gnomAD v2: 5-1403128-G-A
• gnomAD v3: 5-1403013-G-A
• gnomAD v4: 5-1403013-G-A
• COSMIC: COSM1434903
• MyVariant Identifiers: chr5:g.1403128G>A (hg19) ; chr5:g.1403013G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1403013G>A , CM000667.2:g.1403013G>A	GRCh38
NC_000005.9:g.1403128G>A , CM000667.1:g.1403128G>A	GRCh37
NC_000005.8:g.1456128G>A	NCBI36
NG_015885.1:g.47416C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.1676C>T MANE Select	ENSP00000270349.9:p.Ala559Val
ENST00000270349.11:c.1676C>T	ENSP00000270349.9:p.Ala559Val
NM_001044.4:c.1676C>T	NP_001035.1:p.Ala559Val
NM_001044.5:c.1676C>T MANE Select	NP_001035.1:p.Ala559Val