Canonical Allele Identifier: CA649598213
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1386123219
gnomAD v3: 5-1394937-G-A
gnomAD v4: 5-1394937-G-A
COSMIC: COSN20254349
MyVariant Identifiers: chr5:g.1395052G>A (hg19) chr5:g.1394937G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1394937G>A , CM000667.2:g.1394937G>A GRCh38
NC_000005.9:g.1395052G>A , CM000667.1:g.1395052G>A GRCh37
NC_000005.8:g.1448052G>A NCBI36
NG_015885.1:g.55492C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000270349.12:c.1840-179C>T MANE Select ENSP00000270349.9:n.1840-179C>T
ENST00000270349.11:c.1840-179C>T ENSP00000270349.9:n.1840-179C>T
ENST00000512002.2:n.221-179C>T
NM_001044.4:c.1840-179C>T NP_001035.1:n.1840-179C>T
NM_001044.5:c.1840-179C>T MANE Select NP_001035.1:n.1840-179C>T
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