Canonical Allele Identifier: CA16618134
Gene: SLC6A3 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.1442945G>A
GRCh37 chr5:g.1443060G>A
Revel Score:
ENST00000270349 (MANE Select) 0.892
ENST00000453492 0.892
ENST00000513308 0.892
gnomAD v3:
5:1442945 G / A
gnomAD v4:
chr5-1442945-G-A
Joint Max Group AF 0.00000429 (NFE)
Exomes Max Group AF 0.00000381 (NFE)
ClinVar RCV:
RCV000480943
ClinVar Variation:
421417
dbSNP:
1064795122
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1442945G>A , CM000667.2:g.1442945G>A GRCh38
NC_000005.9:g.1443060G>A , CM000667.1:g.1443060G>A GRCh37
NC_000005.8:g.1496060G>A NCBI36
NG_015885.1:g.7484C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.253C>T MANE Select ENSP00000270349.9:p.Arg85Trp
ENST00000270349.11:c.253C>T ENSP00000270349.9:p.Arg85Trp
NM_001044.4:c.253C>T NP_001035.1:p.Arg85Trp
NM_001044.5:c.253C>T MANE Select NP_001035.1:p.Arg85Trp
Search 100 bp 5'
Search 100 bp 3'