Canonical Allele Identifier: CA557566419
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs769578009
gnomAD v2: 5-1414771-A-G
gnomAD v4: 5-1414656-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414656A>G , CM000667.2:g.1414656A>G GRCh38
NC_000005.9:g.1414771A>G , CM000667.1:g.1414771A>G GRCh37
NC_000005.8:g.1467771A>G NCBI36
NG_015885.1:g.35773T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+35T>C MANE Select ENSP00000270349.9:n.1156+35T>C
ENST00000270349.11:c.1156+35T>C ENSP00000270349.9:n.1156+35T>C
NM_001044.4:c.1156+35T>C NP_001035.1:n.1156+35T>C
NM_001044.5:c.1156+35T>C MANE Select NP_001035.1:n.1156+35T>C