Canonical Allele Identifier: CA112954482
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs539934543
gnomAD v3: 5-1394879-C-G
gnomAD v4: 5-1394879-C-G
MyVariant Identifiers: chr5:g.1394994C>G (hg19) chr5:g.1394879C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1394879C>G , CM000667.2:g.1394879C>G GRCh38
NC_000005.9:g.1394994C>G , CM000667.1:g.1394994C>G GRCh37
NC_000005.8:g.1447994C>G NCBI36
NG_015885.1:g.55550G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000270349.12:c.1840-121G>C MANE Select ENSP00000270349.9:n.1840-121G>C
ENST00000270349.11:c.1840-121G>C ENSP00000270349.9:n.1840-121G>C
ENST00000512002.2:n.221-121G>C
NM_001044.4:c.1840-121G>C NP_001035.1:n.1840-121G>C
NM_001044.5:c.1840-121G>C MANE Select NP_001035.1:n.1840-121G>C
Search 100 bp 5'
Search 100 bp 3'