Canonical Allele Identifier: CA519184663

Gene: SLC6A8

Linked Data

• dbSNP Id: rs1557044172
• gnomAD v4: X-153690403-C-A
• MyVariant Identifiers: chrX:g.152955858C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153690403C>A , CM000685.2:g.153690403C>A	GRCh38
NC_000023.10:g.152955858C>A , CM000685.1:g.152955858C>A	GRCh37
NC_000023.9:g.152609052C>A	NCBI36
NG_012016.1:g.7107C>A
NG_012016.2:g.7107C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.291C>A MANE Select	ENSP00000253122.5:p.Ile97=
ENST00000675713.1:n.45C>A
ENST00000253122.9:c.291C>A	ENSP00000253122.5:p.Ile97=
ENST00000430077.6:c.-55C>A	ENSP00000403041.2:n.-55C>A
ENST00000476466.1:n.143C>A
NM_001142805.1:c.291C>A	NP_001136277.1:p.Ile97=
NM_001142806.1:c.-55C>A	NP_001136278.1:n.-55C>A
NM_005629.3:c.291C>A	NP_005620.1:p.Ile97=
NM_005629.4:c.291C>A MANE Select	NP_005620.1:p.Ile97=
NM_001142805.2:c.291C>A	NP_001136277.1:p.Ile97=