Canonical Allele Identifier: CA2673093402
Gene: SLC6A3 HGNC NCBI

Linked Data

gnomAD v4: 5-1394222-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1394222T>A , CM000667.2:g.1394222T>A GRCh38
NC_000005.9:g.1394337T>A , CM000667.1:g.1394337T>A GRCh37
NC_000005.8:g.1447337T>A NCBI36
NG_015885.1:g.56207A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000270349.12:c.*513A>T MANE Select ENSP00000270349.9:n.*513A>T
ENST00000270349.11:c.*513A>T ENSP00000270349.9:n.*513A>T
ENST00000512002.2:n.757A>T
NM_001044.4:c.*513A>T NP_001035.1:n.*513A>T
NM_001044.5:c.*513A>T MANE Select NP_001035.1:n.*513A>T