Canonical Allele Identifier: CA2673093398
Gene: SLC6A3 HGNC NCBI

Linked Data

gnomAD v4: 5-1394212-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1394212G>T , CM000667.2:g.1394212G>T GRCh38
NC_000005.9:g.1394327G>T , CM000667.1:g.1394327G>T GRCh37
NC_000005.8:g.1447327G>T NCBI36
NG_015885.1:g.56217C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000270349.12:c.*523C>A MANE Select ENSP00000270349.9:n.*523C>A
ENST00000270349.11:c.*523C>A ENSP00000270349.9:n.*523C>A
ENST00000512002.2:n.767C>A
NM_001044.4:c.*523C>A NP_001035.1:n.*523C>A
NM_001044.5:c.*523C>A MANE Select NP_001035.1:n.*523C>A