Canonical Allele Identifier: CA2579744193
Gene: SLC6A8 HGNC NCBI

Linked Data

gnomAD v4: X-153690309-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153690309G>A , CM000685.2:g.153690309G>A GRCh38
NC_000023.10:g.152955764G>A , CM000685.1:g.152955764G>A GRCh37
NC_000023.9:g.152608958G>A NCBI36
NG_012016.1:g.7013G>A
NG_012016.2:g.7013G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.263-66G>A MANE Select ENSP00000253122.5:n.263-66G>A
ENST00000253122.9:c.263-66G>A ENSP00000253122.5:n.263-66G>A
ENST00000430077.6:c.-83-66G>A ENSP00000403041.2:n.-83-66G>A
ENST00000476466.1:n.115-66G>A
NM_001142805.1:c.263-66G>A NP_001136277.1:n.263-66G>A
NM_001142806.1:c.-83-66G>A NP_001136278.1:n.-83-66G>A
NM_005629.3:c.263-66G>A NP_005620.1:n.263-66G>A
NM_005629.4:c.263-66G>A MANE Select NP_005620.1:n.263-66G>A
NM_001142805.2:c.263-66G>A NP_001136277.1:n.263-66G>A
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