Canonical Allele Identifier: CA359087129
Gene: SLC6A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1421897C>G , CM000667.2:g.1421897C>G GRCh38
NC_000005.9:g.1422012C>G , CM000667.1:g.1422012C>G GRCh37
NC_000005.8:g.1475012C>G NCBI36
NG_015885.1:g.28532G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000270349.12:c.771G>C MANE Select ENSP00000270349.9:p.Lys257Asn
ENST00000270349.11:c.771G>C ENSP00000270349.9:p.Lys257Asn
NM_001044.4:c.771G>C NP_001035.1:p.Lys257Asn
NM_001044.5:c.771G>C MANE Select NP_001035.1:p.Lys257Asn