Canonical Allele Identifier: CA3186278
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs546608337
ExAC: 5:1422030 G / A
gnomAD v2: 5-1422030-G-A
gnomAD v3: 5-1421915-G-A
gnomAD v4: 5-1421915-G-A
MyVariant Identifiers: chr5:g.1422030G>A (hg19) chr5:g.1421915G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1421915G>A , CM000667.2:g.1421915G>A GRCh38
NC_000005.9:g.1422030G>A , CM000667.1:g.1422030G>A GRCh37
NC_000005.8:g.1475030G>A NCBI36
NG_015885.1:g.28514C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000270349.12:c.753C>T MANE Select ENSP00000270349.9:p.Leu251=
ENST00000270349.11:c.753C>T ENSP00000270349.9:p.Leu251=
NM_001044.4:c.753C>T NP_001035.1:p.Leu251=
NM_001044.5:c.753C>T MANE Select NP_001035.1:p.Leu251=
Search 100 bp 5'
Search 100 bp 3'