Canonical Allele Identifier: CA2578260693
Gene: SLC6A3 HGNC NCBI

Linked Data

gnomAD v4: 5-1411182-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1411182C>T , CM000667.2:g.1411182C>T GRCh38
NC_000005.9:g.1411297C>T , CM000667.1:g.1411297C>T GRCh37
NC_000005.8:g.1464297C>T NCBI36
NG_015885.1:g.39247G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000270349.12:c.1269+61G>A MANE Select ENSP00000270349.9:n.1269+61G>A
ENST00000270349.11:c.1269+61G>A ENSP00000270349.9:n.1269+61G>A
NM_001044.4:c.1269+61G>A NP_001035.1:n.1269+61G>A
NM_001044.5:c.1269+61G>A MANE Select NP_001035.1:n.1269+61G>A