Canonical Allele Identifier: CA415086884

Gene: SLC6A8

Linked Data

• gnomAD v4: X-153694210-C-G
• MyVariant Identifiers: chrX:g.152959665C>G (hg19) ; chrX:g.153694210C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694210C>G , CM000685.2:g.153694210C>G	GRCh38
NC_000023.10:g.152959665C>G , CM000685.1:g.152959665C>G	GRCh37
NC_000023.9:g.152612859C>G	NCBI36
NG_012016.1:g.10914C>G
NG_012016.2:g.10914C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1335C>G MANE Select	ENSP00000253122.5:p.Ile445Met
ENST00000253122.9:c.1335C>G	ENSP00000253122.5:p.Ile445Met
ENST00000413787.1:c.264C>G	ENSP00000400463.1:p.Ile88Met
ENST00000430077.6:c.990C>G	ENSP00000403041.2:p.Ile330Met
ENST00000442457.1:c.389C>G
ENST00000485324.1:n.1480C>G
NM_001142805.1:c.1305C>G	NP_001136277.1:p.Ile435Met
NM_001142806.1:c.990C>G	NP_001136278.1:p.Ile330Met
NM_005629.3:c.1335C>G	NP_005620.1:p.Ile445Met
NM_005629.4:c.1335C>G MANE Select	NP_005620.1:p.Ile445Met
NM_001142805.2:c.1305C>G	NP_001136277.1:p.Ile435Met