Canonical Allele Identifier: CA2673096564
Gene: SLC6A3 HGNC NCBI

Linked Data

gnomAD v4: 5-1421822-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1421822G>T , CM000667.2:g.1421822G>T GRCh38
NC_000005.9:g.1421937G>T , CM000667.1:g.1421937G>T GRCh37
NC_000005.8:g.1474937G>T NCBI36
NG_015885.1:g.28607C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000270349.12:c.792+54C>A MANE Select ENSP00000270349.9:n.792+54C>A
ENST00000270349.11:c.792+54C>A ENSP00000270349.9:n.792+54C>A
NM_001044.4:c.792+54C>A NP_001035.1:n.792+54C>A
NM_001044.5:c.792+54C>A MANE Select NP_001035.1:n.792+54C>A