Canonical Allele Identifier: CA359087183
Gene: SLC6A3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.1422034A>G (hg19) chr5:g.1421919A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1421919A>G , CM000667.2:g.1421919A>G GRCh38
NC_000005.9:g.1422034A>G , CM000667.1:g.1422034A>G GRCh37
NC_000005.8:g.1475034A>G NCBI36
NG_015885.1:g.28510T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000270349.12:c.749T>C MANE Select ENSP00000270349.9:p.Leu250Pro
ENST00000270349.11:c.749T>C ENSP00000270349.9:p.Leu250Pro
NM_001044.4:c.749T>C NP_001035.1:p.Leu250Pro
NM_001044.5:c.749T>C MANE Select NP_001035.1:p.Leu250Pro
Search 100 bp 5'
Search 100 bp 3'