Canonical Allele Identifier: CA2583000665
Gene: REEP6 HGNC NCBI

Linked Data

gnomAD v4: 19-1496232-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1496232C>G , CM000681.2:g.1496232C>G GRCh38
NC_000019.9:g.1496231C>G , CM000681.1:g.1496231C>G GRCh37
NC_000019.8:g.1447231C>G NCBI36
NG_055254.1:g.10228C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000233596.8:c.349-53C>G MANE Select ENSP00000233596.2:n.349-53C>G
ENST00000395479.10:c.349-53C>G MANE Plus Clinical ENSP00000378861.5:n.349-53C>G
ENST00000233596.7:c.349-53C>G ENSP00000233596.2:n.349-53C>G
ENST00000395479.8:c.165-53C>G
ENST00000395484.4:c.133-53C>G ENSP00000378865.4:n.133-53C>G
NM_138393.1:c.349-53C>G NP_612402.1:n.349-53C>G
NM_001329556.2:c.349-53C>G NP_001316485.1:n.349-53C>G
NM_138393.3:c.349-53C>G NP_612402.1:n.349-53C>G
NM_138393.4:c.349-53C>G MANE Select NP_612402.1:n.349-53C>G
NM_001329556.3:c.349-53C>G MANE Plus Clinical NP_001316485.1:n.349-53C>G
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