Canonical Allele Identifier: CA2670054562
Gene: RAB28 HGNC NCBI

Linked Data

gnomAD v4: 4-13376737-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.13376737G>T , CM000666.2:g.13376737G>T GRCh38
NC_000004.11:g.13378361G>T , CM000666.1:g.13378361G>T GRCh37
NC_000004.10:g.12987459G>T NCBI36
NG_033891.1:g.112629C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000288723.9:c.496-115C>A MANE Plus Clinical ENSP00000288723.4:n.496-115C>A
ENST00000330852.10:c.496-115C>A MANE Select ENSP00000328551.5:n.496-115C>A
ENST00000288723.8:c.496-115C>A ENSP00000288723.4:n.496-115C>A
ENST00000330852.9:c.496-115C>A ENSP00000328551.5:n.496-115C>A
ENST00000338176.8:c.496-115C>A ENSP00000340079.4:n.496-115C>A
ENST00000504644.1:c.105-115C>A
ENST00000508274.5:c.*78-115C>A ENSP00000424043.1:n.*78-115C>A
ENST00000511649.5:c.263-115C>A
ENST00000630951.1:c.*78-115C>A ENSP00000485808.1:n.*78-115C>A
NM_001017979.2:c.496-115C>A NP_001017979.1:n.496-115C>A
NM_001159601.1:c.496-115C>A NP_001153073.1:n.496-115C>A
NM_004249.3:c.496-115C>A NP_004240.2:n.496-115C>A
XM_005248215.3:c.496-115C>A XP_005248272.1:n.496-115C>A
XM_011513911.1:c.496-115C>A XP_011512213.1:n.496-115C>A
XM_011513912.1:c.265-115C>A XP_011512214.1:n.265-115C>A
XR_925360.1:n.711-115C>A
XR_925361.1:n.711-115C>A
NM_001017979.3:c.496-115C>A MANE Select NP_001017979.1:n.496-115C>A
NM_004249.4:c.496-115C>A MANE Plus Clinical NP_004240.2:n.496-115C>A
NM_001159601.2:c.496-115C>A NP_001153073.1:n.496-115C>A