Canonical Allele Identifier: CA10549487

Gene: SLC6A8

Linked Data

• dbSNP Id: rs782506865
• ExAC: X:152959630 C / T
• gnomAD v2: X-152959630-C-T
• gnomAD v4: X-153694175-C-T
• MyVariant Identifiers: chrX:g.152959630C>T (hg19) ; chrX:g.153694175C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694175C>T , CM000685.2:g.153694175C>T	GRCh38
NC_000023.10:g.152959630C>T , CM000685.1:g.152959630C>T	GRCh37
NC_000023.9:g.152612824C>T	NCBI36
NG_012016.1:g.10879C>T
NG_012016.2:g.10879C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1300C>T MANE Select	ENSP00000253122.5:p.Pro434Ser
ENST00000253122.9:c.1300C>T	ENSP00000253122.5:p.Pro434Ser
ENST00000413787.1:c.258-29C>T	ENSP00000400463.1:n.258-29C>T
ENST00000430077.6:c.955C>T	ENSP00000403041.2:p.Pro319Ser
ENST00000442457.1:c.354C>T
ENST00000485324.1:n.1445C>T
NM_001142805.1:c.1270C>T	NP_001136277.1:p.Pro424Ser
NM_001142806.1:c.955C>T	NP_001136278.1:p.Pro319Ser
NM_005629.3:c.1300C>T	NP_005620.1:p.Pro434Ser
NM_005629.4:c.1300C>T MANE Select	NP_005620.1:p.Pro434Ser
NM_001142805.2:c.1270C>T	NP_001136277.1:p.Pro424Ser