Canonical Allele Identifier: CA873256507

Gene: SLC6A8

Linked Data

• dbSNP Id: rs1192685793
• gnomAD v3: X-153690522-C-G
• gnomAD v4: X-153690522-C-G
• MyVariant Identifiers: chrX:g.153690522C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153690522C>G , CM000685.2:g.153690522C>G	GRCh38
NC_000023.10:g.152955977C>G , CM000685.1:g.152955977C>G	GRCh37
NC_000023.9:g.152609171C>G	NCBI36
NG_012016.1:g.7226C>G
NG_012016.2:g.7226C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.394+16C>G MANE Select	ENSP00000253122.5:n.394+16C>G
ENST00000675713.1:n.148+16C>G
ENST00000253122.9:c.394+16C>G	ENSP00000253122.5:n.394+16C>G
ENST00000430077.6:c.49+16C>G	ENSP00000403041.2:n.49+16C>G
ENST00000476466.1:n.262C>G
NM_001142805.1:c.394+16C>G	NP_001136277.1:n.394+16C>G
NM_001142806.1:c.49+16C>G	NP_001136278.1:n.49+16C>G
NM_005629.3:c.394+16C>G	NP_005620.1:n.394+16C>G
NM_005629.4:c.394+16C>G MANE Select	NP_005620.1:n.394+16C>G
NM_001142805.2:c.394+16C>G	NP_001136277.1:n.394+16C>G