Canonical Allele Identifier: CA557566674
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1446783367
gnomAD v2: 5-1415671-T-C
gnomAD v3: 5-1415556-T-C
gnomAD v4: 5-1415556-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1415556T>C , CM000667.2:g.1415556T>C GRCh38
NC_000005.9:g.1415671T>C , CM000667.1:g.1415671T>C GRCh37
NC_000005.8:g.1468671T>C NCBI36
NG_015885.1:g.34873A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000270349.12:c.1031+542A>G MANE Select ENSP00000270349.9:n.1031+542A>G
ENST00000270349.11:c.1031+542A>G ENSP00000270349.9:n.1031+542A>G
ENST00000511750.1:n.481+542A>G
NM_001044.4:c.1031+542A>G NP_001035.1:n.1031+542A>G
NM_001044.5:c.1031+542A>G MANE Select NP_001035.1:n.1031+542A>G