Canonical Allele Identifier: CA443021613
Gene: SLC6A3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.1422033C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1421918C>G , CM000667.2:g.1421918C>G GRCh38
NC_000005.9:g.1422033C>G , CM000667.1:g.1422033C>G GRCh37
NC_000005.8:g.1475033C>G NCBI36
NG_015885.1:g.28511G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000270349.12:c.750G>C MANE Select ENSP00000270349.9:p.Leu250=
ENST00000270349.11:c.750G>C ENSP00000270349.9:p.Leu250=
NM_001044.4:c.750G>C NP_001035.1:p.Leu250=
NM_001044.5:c.750G>C MANE Select NP_001035.1:p.Leu250=