Canonical Allele Identifier: CA557565146
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1423217300
gnomAD v2: 5-1411322-T-G
gnomAD v3: 5-1411207-T-G
gnomAD v4: 5-1411207-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1411207T>G , CM000667.2:g.1411207T>G GRCh38
NC_000005.9:g.1411322T>G , CM000667.1:g.1411322T>G GRCh37
NC_000005.8:g.1464322T>G NCBI36
NG_015885.1:g.39222A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1269+36A>C MANE Select ENSP00000270349.9:n.1269+36A>C
ENST00000270349.11:c.1269+36A>C ENSP00000270349.9:n.1269+36A>C
NM_001044.4:c.1269+36A>C NP_001035.1:n.1269+36A>C
NM_001044.5:c.1269+36A>C MANE Select NP_001035.1:n.1269+36A>C