Canonical Allele Identifier: CA2578260828
Gene: SLC6A3 HGNC NCBI

Linked Data

gnomAD v4: 5-1421814-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1421814G>T , CM000667.2:g.1421814G>T GRCh38
NC_000005.9:g.1421929G>T , CM000667.1:g.1421929G>T GRCh37
NC_000005.8:g.1474929G>T NCBI36
NG_015885.1:g.28615C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000270349.12:c.792+62C>A MANE Select ENSP00000270349.9:n.792+62C>A
ENST00000270349.11:c.792+62C>A ENSP00000270349.9:n.792+62C>A
NM_001044.4:c.792+62C>A NP_001035.1:n.792+62C>A
NM_001044.5:c.792+62C>A MANE Select NP_001035.1:n.792+62C>A