Canonical Allele Identifier: CA557555682
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1175523585
gnomAD v2: 5-1443851-AT-A
gnomAD v3: 5-1443736-AT-A
gnomAD v4: 5-1443736-AT-A
MyVariant Identifiers: chr5:g.1443852del (hg19) chr5:g.1443737del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1443738del , CM000667.2:g.1443738del GRCh38
NC_000005.9:g.1443853del , CM000667.1:g.1443853del GRCh37
NC_000005.8:g.1496853del NCBI36
NG_015885.1:g.6692del

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.-45-495del MANE Select ENSP00000270349.9:n.-45-495del
ENST00000270349.11:c.-45-495del ENSP00000270349.9:n.-45-495del
NM_001044.4:c.-45-495del NP_001035.1:n.-45-495del
NM_001044.5:c.-45-495del MANE Select NP_001035.1:n.-45-495del
Search 100 bp 5'
Search 100 bp 3'