Canonical Allele Identifier: CA10549426
Community Standard Title: NM_005629.4(SLC6A8):c.1141+37G>A
Gene: SLC6A8 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153693623G>A , CM000685.2:g.153693623G>A GRCh38
NC_000023.10:g.152959078G>A , CM000685.1:g.152959078G>A GRCh37
NC_000023.9:g.152612272G>A NCBI36
NG_012016.1:g.10327G>A
NG_012016.2:g.10327G>A

Transcript Alleles

HGVS Amino-acid Change
NM_005629.4:c.1141+37G>A MANE Select NP_005620.1:n.1141+37G>A
ENST00000253122.10:c.1141+37G>A MANE Select ENSP00000253122.5:n.1141+37G>A
NM_001142805.1:c.1111+37G>A NP_001136277.1:n.1111+37G>A
NM_001142805.2:c.1111+37G>A NP_001136277.1:n.1111+37G>A
NM_001142806.1:c.796+37G>A NP_001136278.1:n.796+37G>A
NM_005629.3:c.1141+37G>A NP_005620.1:n.1141+37G>A
ENST00000253122.9:c.1141+37G>A ENSP00000253122.5:n.1141+37G>A
ENST00000413787.1:c.257+37G>A ENSP00000400463.1:n.257+37G>A
ENST00000430077.6:c.796+37G>A ENSP00000403041.2:n.796+37G>A
ENST00000442457.1:c.195+37G>A
ENST00000457723.1:c.125+37G>A ENSP00000394742.1:n.125+37G>A
ENST00000467402.1:n.240+37G>A
ENST00000485324.1:n.1174+37G>A
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