Canonical Allele Identifier: CA112970964
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs968913340
gnomAD v2: 5-1444510-T-C
gnomAD v3: 5-1444395-T-C
gnomAD v4: 5-1444395-T-C
MyVariant Identifiers: chr5:g.1444510T>C (hg19) chr5:g.1444510_1444512delinsCAC (hg19) chr5:g.1444395T>C (hg38) chr5:g.1444395_1444397delinsCAC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1444395T>C , CM000667.2:g.1444395T>C GRCh38
NC_000005.9:g.1444510T>C , CM000667.1:g.1444510T>C GRCh37
NC_000005.8:g.1497510T>C NCBI36
NG_015885.1:g.6034A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.-46+953A>G MANE Select ENSP00000270349.9:n.-46+953A>G
ENST00000270349.11:c.-46+953A>G ENSP00000270349.9:n.-46+953A>G
NM_001044.4:c.-46+953A>G NP_001035.1:n.-46+953A>G
NM_001044.5:c.-46+953A>G MANE Select NP_001035.1:n.-46+953A>G
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