Canonical Allele Identifier: CA359083826

Gene: SLC6A3

Linked Data

• MyVariant Identifiers: chr5:g.1416226T>G (hg19) ; chr5:g.1416111T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1416111T>G , CM000667.2:g.1416111T>G	GRCh38
NC_000005.9:g.1416226T>G , CM000667.1:g.1416226T>G	GRCh37
NC_000005.8:g.1469226T>G	NCBI36
NG_015885.1:g.34318A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000270349.12:c.1018A>C MANE Select	ENSP00000270349.9:p.Asn340His
ENST00000270349.11:c.1018A>C	ENSP00000270349.9:p.Asn340His
ENST00000511750.1:n.468A>C
NM_001044.4:c.1018A>C	NP_001035.1:p.Asn340His
NM_001044.5:c.1018A>C MANE Select	NP_001035.1:p.Asn340His