Canonical Allele Identifier: CA519344925

Gene: SLC6A8

Linked Data

• gnomAD v4: X-153694225-T-C
• MyVariant Identifiers: chrX:g.152959680T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694225T>C , CM000685.2:g.153694225T>C	GRCh38
NC_000023.10:g.152959680T>C , CM000685.1:g.152959680T>C	GRCh37
NC_000023.9:g.152612874T>C	NCBI36
NG_012016.1:g.10929T>C
NG_012016.2:g.10929T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1350T>C MANE Select	ENSP00000253122.5:p.Cys450=
ENST00000253122.9:c.1350T>C	ENSP00000253122.5:p.Cys450=
ENST00000413787.1:c.279T>C	ENSP00000400463.1:p.Cys93=
ENST00000430077.6:c.1005T>C	ENSP00000403041.2:p.Cys335=
ENST00000442457.1:c.404T>C
ENST00000485324.1:n.1495T>C
NM_001142805.1:c.1320T>C	NP_001136277.1:p.Cys440=
NM_001142806.1:c.1005T>C	NP_001136278.1:p.Cys335=
NM_005629.3:c.1350T>C	NP_005620.1:p.Cys450=
NM_005629.4:c.1350T>C MANE Select	NP_005620.1:p.Cys450=
NM_001142805.2:c.1320T>C	NP_001136277.1:p.Cys440=