Canonical Allele Identifier: CA415086754

Gene: SLC6A8

Linked Data

• MyVariant Identifiers: chrX:g.152959627C>A (hg19) ; chrX:g.153694172C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694172C>A , CM000685.2:g.153694172C>A	GRCh38
NC_000023.10:g.152959627C>A , CM000685.1:g.152959627C>A	GRCh37
NC_000023.9:g.152612821C>A	NCBI36
NG_012016.1:g.10876C>A
NG_012016.2:g.10876C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1297C>A MANE Select	ENSP00000253122.5:p.Leu433Ile
ENST00000253122.9:c.1297C>A	ENSP00000253122.5:p.Leu433Ile
ENST00000413787.1:c.258-32C>A	ENSP00000400463.1:n.258-32C>A
ENST00000430077.6:c.952C>A	ENSP00000403041.2:p.Leu318Ile
ENST00000442457.1:c.351C>A
ENST00000485324.1:n.1442C>A
NM_001142805.1:c.1267C>A	NP_001136277.1:p.Leu423Ile
NM_001142806.1:c.952C>A	NP_001136278.1:p.Leu318Ile
NM_005629.3:c.1297C>A	NP_005620.1:p.Leu433Ile
NM_005629.4:c.1297C>A MANE Select	NP_005620.1:p.Leu433Ile
NM_001142805.2:c.1267C>A	NP_001136277.1:p.Leu423Ile