Canonical Allele Identifier: CA112963139
Gene: SLC6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1199078
ClinVar RCV Id: RCV001563453
dbSNP Id: rs13186941
gnomAD v2: 5-1414577-G-A
gnomAD v3: 5-1414462-G-A
gnomAD v4: 5-1414462-G-A
MyVariant Identifiers: chr5:g.1414577G>A (hg19) chr5:g.1414462G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414462G>A , CM000667.2:g.1414462G>A GRCh38
NC_000005.9:g.1414577G>A , CM000667.1:g.1414577G>A GRCh37
NC_000005.8:g.1467577G>A NCBI36
NG_015885.1:g.35967C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+229C>T MANE Select ENSP00000270349.9:n.1156+229C>T
ENST00000270349.11:c.1156+229C>T ENSP00000270349.9:n.1156+229C>T
NM_001044.4:c.1156+229C>T NP_001035.1:n.1156+229C>T
NM_001044.5:c.1156+229C>T MANE Select NP_001035.1:n.1156+229C>T
Search 100 bp 5'
Search 100 bp 3'