Canonical Allele Identifier: CA359083971
Gene: SLC6A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1416141T>C , CM000667.2:g.1416141T>C GRCh38
NC_000005.9:g.1416256T>C , CM000667.1:g.1416256T>C GRCh37
NC_000005.8:g.1469256T>C NCBI36
NG_015885.1:g.34288A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.988A>G MANE Select ENSP00000270349.9:p.Ile330Val
ENST00000270349.11:c.988A>G ENSP00000270349.9:p.Ile330Val
ENST00000511750.1:n.438A>G
NM_001044.4:c.988A>G NP_001035.1:p.Ile330Val
NM_001044.5:c.988A>G MANE Select NP_001035.1:p.Ile330Val