Canonical Allele Identifier: CA356405002

Gene: RAB28

Linked Data

• dbSNP Id: rs398123044
• gnomAD v2: 4-13383201-G-T
• gnomAD v3: 4-13381577-G-T
• gnomAD v4: 4-13381577-G-T
• MyVariant Identifiers: chr4:g.13383201G>T (hg19) ; chr4:g.13381577G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.13381577G>T , CM000666.2:g.13381577G>T	GRCh38
NC_000004.11:g.13383201G>T , CM000666.1:g.13383201G>T	GRCh37
NC_000004.10:g.12992299G>T	NCBI36
NG_033891.1:g.107789C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000288723.9:c.409C>A MANE Plus Clinical	ENSP00000288723.4:p.Arg137=
ENST00000330852.10:c.409C>A MANE Select	ENSP00000328551.5:p.Arg137=
ENST00000288723.8:c.409C>A	ENSP00000288723.4:p.Arg137=
ENST00000330852.9:c.409C>A	ENSP00000328551.5:p.Arg137=
ENST00000338176.8:c.409C>A	ENSP00000340079.4:p.Arg137=
ENST00000504644.1:c.18C>A
ENST00000508274.5:c.279C>A	ENSP00000424043.1:p.Cys93Ter
ENST00000511649.5:c.176C>A
ENST00000630951.1:c.279C>A	ENSP00000485808.1:p.Cys93Ter
NM_001017979.2:c.409C>A	NP_001017979.1:p.Arg137=
NM_001159601.1:c.409C>A	NP_001153073.1:p.Arg137=
NM_004249.3:c.409C>A	NP_004240.2:p.Arg137=
XM_005248215.3:c.409C>A	XP_005248272.1:p.Arg137=
XM_011513911.1:c.409C>A	XP_011512213.1:p.Arg137=
XM_011513912.1:c.178C>A	XP_011512214.1:p.Arg60=
XR_925360.1:n.624C>A
XR_925361.1:n.624C>A
XR_925363.1:n.742C>A
NM_001017979.3:c.409C>A MANE Select	NP_001017979.1:p.Arg137=
NM_004249.4:c.409C>A MANE Plus Clinical	NP_004240.2:p.Arg137=
NM_001159601.2:c.409C>A	NP_001153073.1:p.Arg137=