Canonical Allele Identifier: CA2578260685
Gene: SLC6A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1411173A>C , CM000667.2:g.1411173A>C GRCh38
NC_000005.9:g.1411288A>C , CM000667.1:g.1411288A>C GRCh37
NC_000005.8:g.1464288A>C NCBI36
NG_015885.1:g.39256T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1269+70T>G MANE Select ENSP00000270349.9:n.1269+70T>G
ENST00000270349.11:c.1269+70T>G ENSP00000270349.9:n.1269+70T>G
NM_001044.4:c.1269+70T>G NP_001035.1:n.1269+70T>G
NM_001044.5:c.1269+70T>G MANE Select NP_001035.1:n.1269+70T>G