Canonical Allele Identifier: CA2583000660
Gene: REEP6 HGNC NCBI

Linked Data

gnomAD v4: 19-1496229-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1496229C>A , CM000681.2:g.1496229C>A GRCh38
NC_000019.9:g.1496228C>A , CM000681.1:g.1496228C>A GRCh37
NC_000019.8:g.1447228C>A NCBI36
NG_055254.1:g.10225C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000233596.8:c.349-56C>A MANE Select ENSP00000233596.2:n.349-56C>A
ENST00000395479.10:c.349-56C>A MANE Plus Clinical ENSP00000378861.5:n.349-56C>A
ENST00000233596.7:c.349-56C>A ENSP00000233596.2:n.349-56C>A
ENST00000395479.8:c.165-56C>A
ENST00000395484.4:c.133-56C>A ENSP00000378865.4:n.133-56C>A
NM_138393.1:c.349-56C>A NP_612402.1:n.349-56C>A
NM_001329556.2:c.349-56C>A NP_001316485.1:n.349-56C>A
NM_138393.3:c.349-56C>A NP_612402.1:n.349-56C>A
NM_138393.4:c.349-56C>A MANE Select NP_612402.1:n.349-56C>A
NM_001329556.3:c.349-56C>A MANE Plus Clinical NP_001316485.1:n.349-56C>A
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