Canonical Allele Identifier: CA149714
Gene: SLC6A3 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.1421997A>G
GRCh37 chr5:g.1422112A>G
Revel Score:
ENST00000270349 (MANE Select) 0.830
ENST00000453492 0.830
ENST00000513308 0.830
ClinVar Allele:
102922
ClinVar RCV:
RCV000083263
ClinVar Variation:
97017
dbSNP:
431905515
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1421997A>G , CM000667.2:g.1421997A>G GRCh38
NC_000005.9:g.1422112A>G , CM000667.1:g.1422112A>G GRCh37
NC_000005.8:g.1475112A>G NCBI36
NG_015885.1:g.28432T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.671T>C MANE Select ENSP00000270349.9:p.Leu224Pro
ENST00000270349.11:c.671T>C ENSP00000270349.9:p.Leu224Pro
NM_001044.4:c.671T>C NP_001035.1:p.Leu224Pro
NM_001044.5:c.671T>C MANE Select NP_001035.1:p.Leu224Pro
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