Canonical Allele Identifier: CA359083831

Gene: SLC6A3

Linked Data

• MyVariant Identifiers: chr5:g.1416229T>G (hg19) ; chr5:g.1416114T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1416114T>G , CM000667.2:g.1416114T>G	GRCh38
NC_000005.9:g.1416229T>G , CM000667.1:g.1416229T>G	GRCh37
NC_000005.8:g.1469229T>G	NCBI36
NG_015885.1:g.34315A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.1015A>C MANE Select	ENSP00000270349.9:p.Thr339Pro
ENST00000270349.11:c.1015A>C	ENSP00000270349.9:p.Thr339Pro
ENST00000511750.1:n.465A>C
NM_001044.4:c.1015A>C	NP_001035.1:p.Thr339Pro
NM_001044.5:c.1015A>C MANE Select	NP_001035.1:p.Thr339Pro