Canonical Allele Identifier: CA359083849

Gene: SLC6A3

Linked Data

• MyVariant Identifiers: chr5:g.1416233C>G (hg19) ; chr5:g.1416118C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1416118C>G , CM000667.2:g.1416118C>G	GRCh38
NC_000005.9:g.1416233C>G , CM000667.1:g.1416233C>G	GRCh37
NC_000005.8:g.1469233C>G	NCBI36
NG_015885.1:g.34311G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.1011G>C MANE Select	ENSP00000270349.9:p.Lys337Asn
ENST00000270349.11:c.1011G>C	ENSP00000270349.9:p.Lys337Asn
ENST00000511750.1:n.461G>C
NM_001044.4:c.1011G>C	NP_001035.1:p.Lys337Asn
NM_001044.5:c.1011G>C MANE Select	NP_001035.1:p.Lys337Asn