Canonical Allele Identifier: CA519344867
Gene: SLC6A8 HGNC NCBI

Linked Data

ClinVar Variation Id: 571476
ClinVar RCV Id: RCV000692629 RCV001756187
dbSNP Id: rs1463546168
gnomAD v2: X-152959632-G-A
gnomAD v4: X-153694177-G-A
COSMIC: COSM263744
MyVariant Identifiers: chrX:g.152959632G>A (hg19) chrX:g.153694177G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153694177G>A , CM000685.2:g.153694177G>A GRCh38
NC_000023.10:g.152959632G>A , CM000685.1:g.152959632G>A GRCh37
NC_000023.9:g.152612826G>A NCBI36
NG_012016.1:g.10881G>A
NG_012016.2:g.10881G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.1302G>A MANE Select ENSP00000253122.5:p.Pro434=
ENST00000253122.9:c.1302G>A ENSP00000253122.5:p.Pro434=
ENST00000413787.1:c.258-27G>A ENSP00000400463.1:n.258-27G>A
ENST00000430077.6:c.957G>A ENSP00000403041.2:p.Pro319=
ENST00000442457.1:c.356G>A
ENST00000485324.1:n.1447G>A
NM_001142805.1:c.1272G>A NP_001136277.1:p.Pro424=
NM_001142806.1:c.957G>A NP_001136278.1:p.Pro319=
NM_005629.3:c.1302G>A NP_005620.1:p.Pro434=
NM_005629.4:c.1302G>A MANE Select NP_005620.1:p.Pro434=
NM_001142805.2:c.1272G>A NP_001136277.1:p.Pro424=
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