Canonical Allele Identifier: CA2583000651
Gene: REEP6 HGNC NCBI

Linked Data

gnomAD v4: 19-1496222-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1496222C>T , CM000681.2:g.1496222C>T GRCh38
NC_000019.9:g.1496221C>T , CM000681.1:g.1496221C>T GRCh37
NC_000019.8:g.1447221C>T NCBI36
NG_055254.1:g.10218C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000233596.8:c.349-63C>T MANE Select ENSP00000233596.2:n.349-63C>T
ENST00000395479.10:c.349-63C>T MANE Plus Clinical ENSP00000378861.5:n.349-63C>T
ENST00000233596.7:c.349-63C>T ENSP00000233596.2:n.349-63C>T
ENST00000395479.8:c.165-63C>T
ENST00000395484.4:c.133-63C>T ENSP00000378865.4:n.133-63C>T
NM_138393.1:c.349-63C>T NP_612402.1:n.349-63C>T
NM_001329556.2:c.349-63C>T NP_001316485.1:n.349-63C>T
NM_138393.3:c.349-63C>T NP_612402.1:n.349-63C>T
NM_138393.4:c.349-63C>T MANE Select NP_612402.1:n.349-63C>T
NM_001329556.3:c.349-63C>T MANE Plus Clinical NP_001316485.1:n.349-63C>T
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