Canonical Allele Identifier: CA2830536402

Gene: RAB28

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.13368868C>A , CM000666.2:g.13368868C>A	GRCh38
NC_000004.11:g.13370492C>A , CM000666.1:g.13370492C>A	GRCh37
NC_000004.10:g.12979590C>A	NCBI36
NG_033891.1:g.120498G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288723.9:c.*6-218G>T MANE Plus Clinical	ENSP00000288723.4:n.*6-218G>T
ENST00000330852.10:c.574-218G>T MANE Select	ENSP00000328551.5:n.574-218G>T
ENST00000288723.8:c.*6-218G>T	ENSP00000288723.4:n.*6-218G>T
ENST00000330852.9:c.574-218G>T	ENSP00000328551.5:n.574-218G>T
ENST00000338176.8:c.*32-218G>T	ENSP00000340079.4:n.*32-218G>T
ENST00000504644.1:c.256-218G>T
ENST00000508274.5:c.*156-218G>T	ENSP00000424043.1:n.*156-218G>T
ENST00000511649.5:c.435+1003G>T
ENST00000630951.1:c.*251-218G>T	ENSP00000485808.1:n.*251-218G>T
NM_001017979.2:c.574-218G>T	NP_001017979.1:n.574-218G>T
NM_001159601.1:c.*32-218G>T	NP_001153073.1:n.*32-218G>T
NM_004249.3:c.*6-218G>T	NP_004240.2:n.*6-218G>T
XM_011513911.1:c.573+7677G>T	XP_011512213.1:n.573+7677G>T
XM_011513912.1:c.343-218G>T	XP_011512214.1:n.343-218G>T
XR_925360.1:n.789-7235G>T
XR_925361.1:n.788+7677G>T
NM_001017979.3:c.574-218G>T MANE Select	NP_001017979.1:n.574-218G>T
NM_004249.4:c.*6-218G>T MANE Plus Clinical	NP_004240.2:n.*6-218G>T
NM_001159601.2:c.*32-218G>T	NP_001153073.1:n.*32-218G>T