Canonical Allele Identifier: CA415086110

Gene: SLC6A8

Linked Data

• gnomAD v4: X-153693914-T-C
• MyVariant Identifiers: chrX:g.152959369T>C (hg19) ; chrX:g.153693914T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153693914T>C , CM000685.2:g.153693914T>C	GRCh38
NC_000023.10:g.152959369T>C , CM000685.1:g.152959369T>C	GRCh37
NC_000023.9:g.152612563T>C	NCBI36
NG_012016.1:g.10618T>C
NG_012016.2:g.10618T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1151T>C MANE Select	ENSP00000253122.5:p.Leu384Pro
ENST00000253122.9:c.1151T>C	ENSP00000253122.5:p.Leu384Pro
ENST00000413787.1:c.258-290T>C	ENSP00000400463.1:n.258-290T>C
ENST00000430077.6:c.806T>C	ENSP00000403041.2:p.Leu269Pro
ENST00000442457.1:c.205T>C
ENST00000457723.1:c.135T>C	ENSP00000394742.1:p.Pro45=
ENST00000467402.1:n.250T>C
ENST00000485324.1:n.1184T>C
NM_001142805.1:c.1121T>C	NP_001136277.1:p.Leu374Pro
NM_001142806.1:c.806T>C	NP_001136278.1:p.Leu269Pro
NM_005629.3:c.1151T>C	NP_005620.1:p.Leu384Pro
NM_005629.4:c.1151T>C MANE Select	NP_005620.1:p.Leu384Pro
NM_001142805.2:c.1121T>C	NP_001136277.1:p.Leu374Pro