Canonical Allele Identifier: CA2765046291
Gene: SLC6A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414559G>A , CM000667.2:g.1414559G>A GRCh38
NC_000005.9:g.1414674G>A , CM000667.1:g.1414674G>A GRCh37
NC_000005.8:g.1467674G>A NCBI36
NG_015885.1:g.35870C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+132C>T MANE Select ENSP00000270349.9:n.1156+132C>T
ENST00000270349.11:c.1156+132C>T ENSP00000270349.9:n.1156+132C>T
NM_001044.4:c.1156+132C>T NP_001035.1:n.1156+132C>T
NM_001044.5:c.1156+132C>T MANE Select NP_001035.1:n.1156+132C>T