Canonical Allele Identifier: CA3185942
Gene: SLC6A3 HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1402961C>T , CM000667.2:g.1402961C>T GRCh38
NC_000005.9:g.1403076C>T , CM000667.1:g.1403076C>T GRCh37
NC_000005.8:g.1456076C>T NCBI36
NG_015885.1:g.47468G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1728G>A MANE Select ENSP00000270349.9:p.Ala576=
ENST00000270349.11:c.1728G>A ENSP00000270349.9:p.Ala576=
NM_001044.4:c.1728G>A NP_001035.1:p.Ala576=
NM_001044.5:c.1728G>A MANE Select NP_001035.1:p.Ala576=