Canonical Allele Identifier: CA112968566
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs115076319
gnomAD v2: 5-1423872-C-T
gnomAD v3: 5-1423757-C-T
gnomAD v4: 5-1423757-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1423757C>T , CM000667.2:g.1423757C>T GRCh38
NC_000005.9:g.1423872C>T , CM000667.1:g.1423872C>T GRCh37
NC_000005.8:g.1476872C>T NCBI36
NG_015885.1:g.26672G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000270349.12:c.654-1743G>A MANE Select ENSP00000270349.9:n.654-1743G>A
ENST00000270349.11:c.654-1743G>A ENSP00000270349.9:n.654-1743G>A
NM_001044.4:c.654-1743G>A NP_001035.1:n.654-1743G>A
NM_001044.5:c.654-1743G>A MANE Select NP_001035.1:n.654-1743G>A