Canonical Allele Identifier: CA3186355
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs751595931
ExAC: 5:1432744 G / A
gnomAD v2: 5-1432744-G-A
gnomAD v4: 5-1432629-G-A
COSMIC: COSM116724
MyVariant Identifiers: chr5:g.1432744G>A (hg19) chr5:g.1432629G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1432629G>A , CM000667.2:g.1432629G>A GRCh38
NC_000005.9:g.1432744G>A , CM000667.1:g.1432744G>A GRCh37
NC_000005.8:g.1485744G>A NCBI36
NG_015885.1:g.17800C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.488C>T MANE Select ENSP00000270349.9:p.Ala163Val
ENST00000270349.11:c.488C>T ENSP00000270349.9:p.Ala163Val
NM_001044.4:c.488C>T NP_001035.1:p.Ala163Val
NM_001044.5:c.488C>T MANE Select NP_001035.1:p.Ala163Val
Search 100 bp 5'
Search 100 bp 3'