Canonical Allele Identifier: CA1522634774
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1755683028
gnomAD v3: 5-1395068-G-C
gnomAD v4: 5-1395068-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1395068G>C , CM000667.2:g.1395068G>C GRCh38
NC_000005.9:g.1395183G>C , CM000667.1:g.1395183G>C GRCh37
NC_000005.8:g.1448183G>C NCBI36
NG_015885.1:g.55361C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1840-310C>G MANE Select ENSP00000270349.9:n.1840-310C>G
ENST00000270349.11:c.1840-310C>G ENSP00000270349.9:n.1840-310C>G
ENST00000512002.2:n.221-310C>G
NM_001044.4:c.1840-310C>G NP_001035.1:n.1840-310C>G
NM_001044.5:c.1840-310C>G MANE Select NP_001035.1:n.1840-310C>G