Canonical Allele Identifier: CA3186277
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs546608337
ExAC: 5:1422030 G / C
gnomAD v2: 5-1422030-G-C
gnomAD v4: 5-1421915-G-C
MyVariant Identifiers: chr5:g.1422030G>C (hg19) chr5:g.1421915G>C (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.753C>G MANE Select ENSP00000270349.9:p.Leu251=
ENST00000270349.11:c.753C>G ENSP00000270349.9:p.Leu251=
NM_001044.4:c.753C>G NP_001035.1:p.Leu251=
NM_001044.5:c.753C>G MANE Select NP_001035.1:p.Leu251=
Search 100 bp 5'
Search 100 bp 3'