Canonical Allele Identifier: CA359087179
Gene: SLC6A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1421917G>C , CM000667.2:g.1421917G>C GRCh38
NC_000005.9:g.1422032G>C , CM000667.1:g.1422032G>C GRCh37
NC_000005.8:g.1475032G>C NCBI36
NG_015885.1:g.28512C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.751C>G MANE Select ENSP00000270349.9:p.Leu251Val
ENST00000270349.11:c.751C>G ENSP00000270349.9:p.Leu251Val
NM_001044.4:c.751C>G NP_001035.1:p.Leu251Val
NM_001044.5:c.751C>G MANE Select NP_001035.1:p.Leu251Val