Canonical Allele Identifier: CA10549554
Gene: SLC6A8 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153694549G>T , CM000685.2:g.153694549G>T GRCh38
NC_000023.10:g.152960004G>T , CM000685.1:g.152960004G>T GRCh37
NC_000023.9:g.152613198G>T NCBI36
NG_012016.1:g.11253G>T
NG_012016.2:g.11253G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.1512G>T MANE Select ENSP00000253122.5:p.Met504Ile
ENST00000253122.9:c.1512G>T ENSP00000253122.5:p.Met504Ile
ENST00000413787.1:c.441G>T ENSP00000400463.1:p.Met147Ile
ENST00000430077.6:c.1167G>T ENSP00000403041.2:p.Met389Ile
ENST00000485324.1:n.1819G>T
NM_001142805.1:c.1482G>T NP_001136277.1:p.Met494Ile
NM_001142806.1:c.1167G>T NP_001136278.1:p.Met389Ile
NM_005629.3:c.1512G>T NP_005620.1:p.Met504Ile
NM_005629.4:c.1512G>T MANE Select NP_005620.1:p.Met504Ile
NM_001142805.2:c.1482G>T NP_001136277.1:p.Met494Ile
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