Canonical Allele Identifier: CA112963073
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs74209258
gnomAD v2: 5-1414500-G-C
gnomAD v3: 5-1414385-G-C
gnomAD v4: 5-1414385-G-C
MyVariant Identifiers: chr5:g.1414500G>C (hg19) chr5:g.1414500_1414539delinsCAAAGGCACTGGGTGGGGGGGCCTGGAGGGGCAGGGCGGA (hg19) chr5:g.1414385G>C (hg38) chr5:g.1414385_1414424delinsCAAAGGCACTGGGTGGGGGGGCCTGGAGGGGCAGGGCGGA (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414385G>C , CM000667.2:g.1414385G>C GRCh38
NC_000005.9:g.1414500G>C , CM000667.1:g.1414500G>C GRCh37
NC_000005.8:g.1467500G>C NCBI36
NG_015885.1:g.36044C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+306C>G MANE Select ENSP00000270349.9:n.1156+306C>G
ENST00000270349.11:c.1156+306C>G ENSP00000270349.9:n.1156+306C>G
NM_001044.4:c.1156+306C>G NP_001035.1:n.1156+306C>G
NM_001044.5:c.1156+306C>G MANE Select NP_001035.1:n.1156+306C>G
Search 100 bp 5'
Search 100 bp 3'