Canonical Allele Identifier: CA359060926
Gene: SLC6A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1432626A>C , CM000667.2:g.1432626A>C GRCh38
NC_000005.9:g.1432741A>C , CM000667.1:g.1432741A>C GRCh37
NC_000005.8:g.1485741A>C NCBI36
NG_015885.1:g.17803T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000270349.12:c.491T>G MANE Select ENSP00000270349.9:p.Leu164Arg
ENST00000270349.11:c.491T>G ENSP00000270349.9:p.Leu164Arg
NM_001044.4:c.491T>G NP_001035.1:p.Leu164Arg
NM_001044.5:c.491T>G MANE Select NP_001035.1:p.Leu164Arg