Canonical Allele Identifier: CA443021706
Gene: SLC6A3 HGNC NCBI

Linked Data

gnomAD v4: 5-1422002-C-T
MyVariant Identifiers: chr5:g.1422117C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1422002C>T , CM000667.2:g.1422002C>T GRCh38
NC_000005.9:g.1422117C>T , CM000667.1:g.1422117C>T GRCh37
NC_000005.8:g.1475117C>T NCBI36
NG_015885.1:g.28427G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000270349.12:c.666G>A MANE Select ENSP00000270349.9:p.Leu222=
ENST00000270349.11:c.666G>A ENSP00000270349.9:p.Leu222=
NM_001044.4:c.666G>A NP_001035.1:p.Leu222=
NM_001044.5:c.666G>A MANE Select NP_001035.1:p.Leu222=