Canonical Allele Identifier: CA2673096565
Gene: SLC6A3 HGNC NCBI

Linked Data

gnomAD v4: 5-1421823-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1421823T>C , CM000667.2:g.1421823T>C GRCh38
NC_000005.9:g.1421938T>C , CM000667.1:g.1421938T>C GRCh37
NC_000005.8:g.1474938T>C NCBI36
NG_015885.1:g.28606A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000270349.12:c.792+53A>G MANE Select ENSP00000270349.9:n.792+53A>G
ENST00000270349.11:c.792+53A>G ENSP00000270349.9:n.792+53A>G
NM_001044.4:c.792+53A>G NP_001035.1:n.792+53A>G
NM_001044.5:c.792+53A>G MANE Select NP_001035.1:n.792+53A>G