Canonical Allele Identifier: CA415087039

Gene: SLC6A8

Linked Data

• COSMIC: COSM755762
• MyVariant Identifiers: chrX:g.152959701C>G (hg19) ; chrX:g.153694246C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694246C>G , CM000685.2:g.153694246C>G	GRCh38
NC_000023.10:g.152959701C>G , CM000685.1:g.152959701C>G	GRCh37
NC_000023.9:g.152612895C>G	NCBI36
NG_012016.1:g.10950C>G
NG_012016.2:g.10950C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1371C>G MANE Select	ENSP00000253122.5:p.Ile457Met
ENST00000253122.9:c.1371C>G	ENSP00000253122.5:p.Ile457Met
ENST00000413787.1:c.300C>G	ENSP00000400463.1:p.Ile100Met
ENST00000430077.6:c.1026C>G	ENSP00000403041.2:p.Ile342Met
ENST00000442457.1:c.425C>G
ENST00000485324.1:n.1516C>G
NM_001142805.1:c.1341C>G	NP_001136277.1:p.Ile447Met
NM_001142806.1:c.1026C>G	NP_001136278.1:p.Ile342Met
NM_005629.3:c.1371C>G	NP_005620.1:p.Ile457Met
NM_005629.4:c.1371C>G MANE Select	NP_005620.1:p.Ile457Met
NM_001142805.2:c.1341C>G	NP_001136277.1:p.Ile447Met