Canonical Allele Identifier: CA149716
Gene: SLC6A3 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.1406226G>A
GRCh37 chr5:g.1406341G>A
Revel Score:
ENST00000270349 (MANE Select) 0.701
ENST00000453492 0.701
gnomAD v2:
5:1406341 G / A
gnomAD v4:
chr5-1406226-G-A
Joint Max Group AF 6.8e-7 (NFE)
Exomes Max Group AF 7.2e-7 (NFE)
ClinVar RCV:
RCV000083264
RCV001854451
ClinVar Variation:
97018
dbSNP:
431905516
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1406226G>A , CM000667.2:g.1406226G>A GRCh38
NC_000005.9:g.1406341G>A , CM000667.1:g.1406341G>A GRCh37
NC_000005.8:g.1459341G>A NCBI36
NG_015885.1:g.44203C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1561C>T MANE Select ENSP00000270349.9:p.Arg521Trp
ENST00000270349.11:c.1561C>T ENSP00000270349.9:p.Arg521Trp
NM_001044.4:c.1561C>T NP_001035.1:p.Arg521Trp
NM_001044.5:c.1561C>T MANE Select NP_001035.1:p.Arg521Trp
Search 100 bp 5'
Search 100 bp 3'