Canonical Allele Identifier: CA2673093411
Gene: SLC6A3 HGNC NCBI

Linked Data

gnomAD v4: 5-1394239-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1394239C>A , CM000667.2:g.1394239C>A GRCh38
NC_000005.9:g.1394354C>A , CM000667.1:g.1394354C>A GRCh37
NC_000005.8:g.1447354C>A NCBI36
NG_015885.1:g.56190G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000270349.12:c.*496G>T MANE Select ENSP00000270349.9:n.*496G>T
ENST00000270349.11:c.*496G>T ENSP00000270349.9:n.*496G>T
ENST00000512002.2:n.740G>T
NM_001044.4:c.*496G>T NP_001035.1:n.*496G>T
NM_001044.5:c.*496G>T MANE Select NP_001035.1:n.*496G>T