Canonical Allele Identifier: CA415086430

Gene: SLC6A8

Linked Data

• gnomAD v4: X-153693964-C-T
• MyVariant Identifiers: chrX:g.152959419C>T (hg19) ; chrX:g.153693964C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153693964C>T , CM000685.2:g.153693964C>T	GRCh38
NC_000023.10:g.152959419C>T , CM000685.1:g.152959419C>T	GRCh37
NC_000023.9:g.152612613C>T	NCBI36
NG_012016.1:g.10668C>T
NG_012016.2:g.10668C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1201C>T MANE Select	ENSP00000253122.5:p.Leu401Phe
ENST00000253122.9:c.1201C>T	ENSP00000253122.5:p.Leu401Phe
ENST00000413787.1:c.258-240C>T	ENSP00000400463.1:n.258-240C>T
ENST00000430077.6:c.856C>T	ENSP00000403041.2:p.Leu286Phe
ENST00000442457.1:c.255C>T
ENST00000457723.1:c.185C>T	ENSP00000394742.1:p.Thr62Ile
ENST00000467402.1:n.300C>T
ENST00000485324.1:n.1234C>T
NM_001142805.1:c.1171C>T	NP_001136277.1:p.Leu391Phe
NM_001142806.1:c.856C>T	NP_001136278.1:p.Leu286Phe
NM_005629.3:c.1201C>T	NP_005620.1:p.Leu401Phe
NM_005629.4:c.1201C>T MANE Select	NP_005620.1:p.Leu401Phe
NM_001142805.2:c.1171C>T	NP_001136277.1:p.Leu391Phe