Canonical Allele Identifier: CA557566652
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1339624195
gnomAD v2: 5-1415548-G-T
gnomAD v3: 5-1415433-G-T
gnomAD v4: 5-1415433-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1415433G>T , CM000667.2:g.1415433G>T GRCh38
NC_000005.9:g.1415548G>T , CM000667.1:g.1415548G>T GRCh37
NC_000005.8:g.1468548G>T NCBI36
NG_015885.1:g.34996C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1032-618C>A MANE Select ENSP00000270349.9:n.1032-618C>A
ENST00000270349.11:c.1032-618C>A ENSP00000270349.9:n.1032-618C>A
ENST00000511750.1:n.482-618C>A
NM_001044.4:c.1032-618C>A NP_001035.1:n.1032-618C>A
NM_001044.5:c.1032-618C>A MANE Select NP_001035.1:n.1032-618C>A