Canonical Allele Identifier: CA415087081
Gene: SLC6A8 HGNC NCBI

Linked Data

ClinVar Variation Id: 3066437
ClinVar RCV Id: RCV003991441
MyVariant Identifiers: chrX:g.152959711A>G (hg19) chrX:g.153694256A>G (hg38)
ERepo: CA415087081/MONDO:0010305/027
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153694256A>G , CM000685.2:g.153694256A>G GRCh38
NC_000023.10:g.152959711A>G , CM000685.1:g.152959711A>G GRCh37
NC_000023.9:g.152612905A>G NCBI36
NG_012016.1:g.10960A>G
NG_012016.2:g.10960A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.1381A>G MANE Select ENSP00000253122.5:p.Met461Val
ENST00000253122.9:c.1381A>G ENSP00000253122.5:p.Met461Val
ENST00000413787.1:c.310A>G ENSP00000400463.1:p.Met104Val
ENST00000430077.6:c.1036A>G ENSP00000403041.2:p.Met346Val
ENST00000442457.1:c.435A>G
ENST00000485324.1:n.1526A>G
NM_001142805.1:c.1351A>G NP_001136277.1:p.Met451Val
NM_001142806.1:c.1036A>G NP_001136278.1:p.Met346Val
NM_005629.3:c.1381A>G NP_005620.1:p.Met461Val
NM_005629.4:c.1381A>G MANE Select NP_005620.1:p.Met461Val
NM_001142805.2:c.1351A>G NP_001136277.1:p.Met451Val
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