Canonical Allele Identifier: CA112963184
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs144067026
gnomAD v2: 5-1414677-G-C
gnomAD v3: 5-1414562-G-C
gnomAD v4: 5-1414562-G-C
MyVariant Identifiers: chr5:g.1414677G>C (hg19) chr5:g.1414562G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414562G>C , CM000667.2:g.1414562G>C GRCh38
NC_000005.9:g.1414677G>C , CM000667.1:g.1414677G>C GRCh37
NC_000005.8:g.1467677G>C NCBI36
NG_015885.1:g.35867C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000270349.12:c.1156+129C>G MANE Select ENSP00000270349.9:n.1156+129C>G
ENST00000270349.11:c.1156+129C>G ENSP00000270349.9:n.1156+129C>G
NM_001044.4:c.1156+129C>G NP_001035.1:n.1156+129C>G
NM_001044.5:c.1156+129C>G MANE Select NP_001035.1:n.1156+129C>G
Search 100 bp 5'
Search 100 bp 3'