Canonical Allele Identifier: CA126862
Gene: SLC6A3 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.1411328G>A
GRCh37 chr5:g.1411443G>A
Revel Score:
ENST00000270349 (MANE Select) 0.888
ENST00000453492 0.888
gnomAD v2:
5:1411443 G / A
gnomAD v3:
5:1411328 G / A
gnomAD v4:
chr5-1411328-G-A
Joint Max Group AF 0.00000128 (NFE)
Exomes Max Group AF 8.7e-7 (NFE)
ClinVar RCV:
RCV000018250
ClinVar Variation:
16764
dbSNP:
267607069
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1411328G>A , CM000667.2:g.1411328G>A GRCh38
NC_000005.9:g.1411443G>A , CM000667.1:g.1411443G>A GRCh37
NC_000005.8:g.1464443G>A NCBI36
NG_015885.1:g.39101C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1184C>T MANE Select ENSP00000270349.9:p.Pro395Leu
ENST00000270349.11:c.1184C>T ENSP00000270349.9:p.Pro395Leu
NM_001044.4:c.1184C>T NP_001035.1:p.Pro395Leu
NM_001044.5:c.1184C>T MANE Select NP_001035.1:p.Pro395Leu
Search 100 bp 5'
Search 100 bp 3'