Canonical Allele Identifier: CA2695038894
Gene: SLC6A8 HGNC NCBI

Linked Data

gnomAD v4: X-153690517-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153690517C>A , CM000685.2:g.153690517C>A GRCh38
NC_000023.10:g.152955972C>A , CM000685.1:g.152955972C>A GRCh37
NC_000023.9:g.152609166C>A NCBI36
NG_012016.1:g.7221C>A
NG_012016.2:g.7221C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.394+11C>A MANE Select ENSP00000253122.5:n.394+11C>A
ENST00000675713.1:n.148+11C>A
ENST00000253122.9:c.394+11C>A ENSP00000253122.5:n.394+11C>A
ENST00000430077.6:c.49+11C>A ENSP00000403041.2:n.49+11C>A
ENST00000476466.1:n.257C>A
NM_001142805.1:c.394+11C>A NP_001136277.1:n.394+11C>A
NM_001142806.1:c.49+11C>A NP_001136278.1:n.49+11C>A
NM_005629.3:c.394+11C>A NP_005620.1:n.394+11C>A
NM_005629.4:c.394+11C>A MANE Select NP_005620.1:n.394+11C>A
NM_001142805.2:c.394+11C>A NP_001136277.1:n.394+11C>A
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