Canonical Allele Identifier: CA10549215
Community Standard Title: NM_005629.4(SLC6A8):c.644+9G>A
Gene: SLC6A8 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153691562G>A , CM000685.2:g.153691562G>A GRCh38
NC_000023.10:g.152957017G>A , CM000685.1:g.152957017G>A GRCh37
NC_000023.9:g.152610211G>A NCBI36
NG_012016.1:g.8266G>A
NG_012016.2:g.8266G>A

Transcript Alleles

HGVS Amino-acid Change
NM_005629.4:c.644+9G>A MANE Select NP_005620.1:n.644+9G>A
ENST00000253122.10:c.644+9G>A MANE Select ENSP00000253122.5:n.644+9G>A
NM_001142805.1:c.644+9G>A NP_001136277.1:n.644+9G>A
NM_001142805.2:c.644+9G>A NP_001136277.1:n.644+9G>A
NM_001142806.1:c.299+9G>A NP_001136278.1:n.299+9G>A
NM_005629.3:c.644+9G>A NP_005620.1:n.644+9G>A
ENST00000253122.9:c.644+9G>A ENSP00000253122.5:n.644+9G>A
ENST00000429147.1:c.93+9G>A
ENST00000430077.6:c.299+9G>A ENSP00000403041.2:n.299+9G>A
ENST00000466243.1:n.436+9G>A
ENST00000467402.1:n.145+55G>A
ENST00000675713.1:n.398+9G>A
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