Canonical Allele Identifier: CA1072513870
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1733735901
gnomAD v3: 5-1443696-T-C
gnomAD v4: 5-1443696-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1443696T>C , CM000667.2:g.1443696T>C GRCh38
NC_000005.9:g.1443811T>C , CM000667.1:g.1443811T>C GRCh37
NC_000005.8:g.1496811T>C NCBI36
NG_015885.1:g.6733A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000270349.12:c.-45-454A>G MANE Select ENSP00000270349.9:n.-45-454A>G
ENST00000270349.11:c.-45-454A>G ENSP00000270349.9:n.-45-454A>G
NM_001044.4:c.-45-454A>G NP_001035.1:n.-45-454A>G
NM_001044.5:c.-45-454A>G MANE Select NP_001035.1:n.-45-454A>G