Canonical Allele Identifier: CA359087162
Gene: SLC6A3 HGNC NCBI

Linked Data

gnomAD v4: 5-1421910-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1421910A>G , CM000667.2:g.1421910A>G GRCh38
NC_000005.9:g.1422025A>G , CM000667.1:g.1422025A>G GRCh37
NC_000005.8:g.1475025A>G NCBI36
NG_015885.1:g.28519T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000270349.12:c.758T>C MANE Select ENSP00000270349.9:p.Phe253Ser
ENST00000270349.11:c.758T>C ENSP00000270349.9:p.Phe253Ser
NM_001044.4:c.758T>C NP_001035.1:p.Phe253Ser
NM_001044.5:c.758T>C MANE Select NP_001035.1:p.Phe253Ser