Canonical Allele Identifier: CA415086869

Gene: SLC6A8

Linked Data

• COSMIC: COSM3800478
• MyVariant Identifiers: chrX:g.152959662G>T (hg19) ; chrX:g.153694207G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694207G>T , CM000685.2:g.153694207G>T	GRCh38
NC_000023.10:g.152959662G>T , CM000685.1:g.152959662G>T	GRCh37
NC_000023.9:g.152612856G>T	NCBI36
NG_012016.1:g.10911G>T
NG_012016.2:g.10911G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1332G>T MANE Select	ENSP00000253122.5:p.Glu444Asp
ENST00000253122.9:c.1332G>T	ENSP00000253122.5:p.Glu444Asp
ENST00000413787.1:c.261G>T	ENSP00000400463.1:p.Glu87Asp
ENST00000430077.6:c.987G>T	ENSP00000403041.2:p.Glu329Asp
ENST00000442457.1:c.386G>T
ENST00000485324.1:n.1477G>T
NM_001142805.1:c.1302G>T	NP_001136277.1:p.Glu434Asp
NM_001142806.1:c.987G>T	NP_001136278.1:p.Glu329Asp
NM_005629.3:c.1332G>T	NP_005620.1:p.Glu444Asp
NM_005629.4:c.1332G>T MANE Select	NP_005620.1:p.Glu444Asp
NM_001142805.2:c.1302G>T	NP_001136277.1:p.Glu434Asp