Canonical Allele Identifier: CA557565981
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1560912729
gnomAD v2: 5-1414498-AGGAAAG-A
MyVariant Identifiers: chr5:g.1414499_1414504del (hg19) chr5:g.1414384_1414389del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414385_1414390del , CM000667.2:g.1414385_1414390del GRCh38
NC_000005.9:g.1414500_1414505del , CM000667.1:g.1414500_1414505del GRCh37
NC_000005.8:g.1467500_1467505del NCBI36
NG_015885.1:g.36040_36045del

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+302_1156+307del MANE Select ENSP00000270349.9:n.1156+302_1156+307del
ENST00000270349.11:c.1156+302_1156+307del ENSP00000270349.9:n.1156+302_1156+307del
NM_001044.4:c.1156+302_1156+307del NP_001035.1:n.1156+302_1156+307del
NM_001044.5:c.1156+302_1156+307del MANE Select NP_001035.1:n.1156+302_1156+307del
Search 100 bp 5'
Search 100 bp 3'