Canonical Allele Identifier: CA549858579

Gene: RAB28

Linked Data

• dbSNP Id: rs1451030363
• gnomAD v2: 4-13378494-T-G
• gnomAD v3: 4-13376870-T-G
• gnomAD v4: 4-13376870-T-G
• MyVariant Identifiers: chr4:g.13378494T>G (hg19) ; chr4:g.13376870T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.13376870T>G , CM000666.2:g.13376870T>G	GRCh38
NC_000004.11:g.13378494T>G , CM000666.1:g.13378494T>G	GRCh37
NC_000004.10:g.12987592T>G	NCBI36
NG_033891.1:g.112496A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288723.9:c.496-248A>C MANE Plus Clinical	ENSP00000288723.4:n.496-248A>C
ENST00000330852.10:c.496-248A>C MANE Select	ENSP00000328551.5:n.496-248A>C
ENST00000288723.8:c.496-248A>C	ENSP00000288723.4:n.496-248A>C
ENST00000330852.9:c.496-248A>C	ENSP00000328551.5:n.496-248A>C
ENST00000338176.8:c.496-248A>C	ENSP00000340079.4:n.496-248A>C
ENST00000504644.1:c.105-248A>C
ENST00000508274.5:c.*78-248A>C	ENSP00000424043.1:n.*78-248A>C
ENST00000511649.5:c.263-248A>C
ENST00000630951.1:c.*78-248A>C	ENSP00000485808.1:n.*78-248A>C
NM_001017979.2:c.496-248A>C	NP_001017979.1:n.496-248A>C
NM_001159601.1:c.496-248A>C	NP_001153073.1:n.496-248A>C
NM_004249.3:c.496-248A>C	NP_004240.2:n.496-248A>C
XM_005248215.3:c.496-248A>C	XP_005248272.1:n.496-248A>C
XM_011513911.1:c.496-248A>C	XP_011512213.1:n.496-248A>C
XM_011513912.1:c.265-248A>C	XP_011512214.1:n.265-248A>C
XR_925360.1:n.711-248A>C
XR_925361.1:n.711-248A>C
NM_001017979.3:c.496-248A>C MANE Select	NP_001017979.1:n.496-248A>C
NM_004249.4:c.496-248A>C MANE Plus Clinical	NP_004240.2:n.496-248A>C
NM_001159601.2:c.496-248A>C	NP_001153073.1:n.496-248A>C