Canonical Allele Identifier: CA2578260688
Gene: SLC6A3 HGNC NCBI

Linked Data

gnomAD v4: 5-1411175-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1411175G>T , CM000667.2:g.1411175G>T GRCh38
NC_000005.9:g.1411290G>T , CM000667.1:g.1411290G>T GRCh37
NC_000005.8:g.1464290G>T NCBI36
NG_015885.1:g.39254C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1269+68C>A MANE Select ENSP00000270349.9:n.1269+68C>A
ENST00000270349.11:c.1269+68C>A ENSP00000270349.9:n.1269+68C>A
NM_001044.4:c.1269+68C>A NP_001035.1:n.1269+68C>A
NM_001044.5:c.1269+68C>A MANE Select NP_001035.1:n.1269+68C>A