Canonical Allele Identifier: CA557566006
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1756208955
gnomAD v2: 5-1414530-GCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCTGGAGGGT-G
gnomAD v3: 5-1414415-GCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCTGGAGGGT-G
gnomAD v4: 5-1414415-GCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCTGGAGGGT-G
MyVariant Identifiers: chr5:g.1414531_1414606del (hg19) chr5:g.1414416_1414491del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414424_1414499del , CM000667.2:g.1414424_1414499del GRCh38
NC_000005.9:g.1414539_1414614del , CM000667.1:g.1414539_1414614del GRCh37
NC_000005.8:g.1467539_1467614del NCBI36
NG_015885.1:g.35938_36013del

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+200_1156+275del MANE Select ENSP00000270349.9:n.1156+200_1156+275del
ENST00000270349.11:c.1156+200_1156+275del ENSP00000270349.9:n.1156+200_1156+275del
NM_001044.4:c.1156+200_1156+275del NP_001035.1:n.1156+200_1156+275del
NM_001044.5:c.1156+200_1156+275del MANE Select NP_001035.1:n.1156+200_1156+275del
Search 100 bp 5'
Search 100 bp 3'