Canonical Allele Identifier: CA415086792

Gene: SLC6A8

Linked Data

• MyVariant Identifiers: chrX:g.152959644C>G (hg19) ; chrX:g.153694189C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694189C>G , CM000685.2:g.153694189C>G	GRCh38
NC_000023.10:g.152959644C>G , CM000685.1:g.152959644C>G	GRCh37
NC_000023.9:g.152612838C>G	NCBI36
NG_012016.1:g.10893C>G
NG_012016.2:g.10893C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1314C>G MANE Select	ENSP00000253122.5:p.Tyr438Ter
ENST00000253122.9:c.1314C>G	ENSP00000253122.5:p.Tyr438Ter
ENST00000413787.1:c.258-15C>G	ENSP00000400463.1:n.258-15C>G
ENST00000430077.6:c.969C>G	ENSP00000403041.2:p.Tyr323Ter
ENST00000442457.1:c.368C>G
ENST00000485324.1:n.1459C>G
NM_001142805.1:c.1284C>G	NP_001136277.1:p.Tyr428Ter
NM_001142806.1:c.969C>G	NP_001136278.1:p.Tyr323Ter
NM_005629.3:c.1314C>G	NP_005620.1:p.Tyr438Ter
NM_005629.4:c.1314C>G MANE Select	NP_005620.1:p.Tyr438Ter
NM_001142805.2:c.1284C>G	NP_001136277.1:p.Tyr428Ter