Canonical Allele Identifier: CA415086612

Gene: SLC6A8

Linked Data

• gnomAD v4: X-153694004-G-T
• MyVariant Identifiers: chrX:g.152959459G>T (hg19) ; chrX:g.153694004G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694004G>T , CM000685.2:g.153694004G>T	GRCh38
NC_000023.10:g.152959459G>T , CM000685.1:g.152959459G>T	GRCh37
NC_000023.9:g.152612653G>T	NCBI36
NG_012016.1:g.10708G>T
NG_012016.2:g.10708G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1241G>T MANE Select	ENSP00000253122.5:p.Gly414Val
ENST00000253122.9:c.1241G>T	ENSP00000253122.5:p.Gly414Val
ENST00000413787.1:c.258-200G>T	ENSP00000400463.1:n.258-200G>T
ENST00000430077.6:c.896G>T	ENSP00000403041.2:p.Gly299Val
ENST00000442457.1:c.295G>T
ENST00000457723.1:c.225G>T	ENSP00000394742.1:p.Trp75Cys
ENST00000485324.1:n.1274G>T
NM_001142805.1:c.1211G>T	NP_001136277.1:p.Gly404Val
NM_001142806.1:c.896G>T	NP_001136278.1:p.Gly299Val
NM_005629.3:c.1241G>T	NP_005620.1:p.Gly414Val
NM_005629.4:c.1241G>T MANE Select	NP_005620.1:p.Gly414Val
NM_001142805.2:c.1211G>T	NP_001136277.1:p.Gly404Val