Canonical Allele Identifier: CA382188214

Gene: RAB30

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.82997264G>C , CM000673.2:g.82997264G>C	GRCh38
NC_000011.9:g.82708306G>C , CM000673.1:g.82708306G>C	GRCh37
NC_000011.8:g.82385954G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527633.6:c.53C>G MANE Select	ENSP00000435089.1:p.Ala18Gly
ENST00000260056.6:c.53C>G	ENSP00000260056.2:p.Ala18Gly
ENST00000524635.1:c.-70C>G	ENSP00000436587.1:n.-70C>G
ENST00000525117.5:c.53C>G	ENSP00000433243.1:p.Ala18Gly
ENST00000526205.5:c.53C>G	ENSP00000432336.1:p.Ala18Gly
ENST00000527633.5:c.53C>G	ENSP00000435089.1:p.Ala18Gly
ENST00000528379.1:c.53C>G	ENSP00000434106.1:p.Ala18Gly
ENST00000530224.5:c.53C>G	ENSP00000436282.1:p.Ala18Gly
ENST00000531021.5:c.53C>G	ENSP00000434953.1:p.Ala18Gly
ENST00000532548.5:c.53C>G	ENSP00000437235.1:p.Ala18Gly
ENST00000533276.6:c.53C>G	ENSP00000434528.2:p.Ala18Gly
ENST00000533486.5:c.53C>G	ENSP00000435189.1:p.Ala18Gly
ENST00000534103.5:c.53C>G	ENSP00000435542.1:p.Ala18Gly
ENST00000534141.5:c.53C>G	ENSP00000434974.1:p.Ala18Gly
ENST00000534301.5:c.53C>G	ENSP00000432193.1:p.Ala18Gly
ENST00000612684.4:c.53C>G	ENSP00000478702.1:p.Ala18Gly
NM_001286059.1:c.53C>G	NP_001272988.1:p.Ala18Gly
NM_001286060.1:c.53C>G	NP_001272989.1:p.Ala18Gly
NM_001286061.1:c.53C>G	NP_001272990.1:p.Ala18Gly
NM_014488.4:c.53C>G	NP_055303.2:p.Ala18Gly
XR_950366.1:n.1078-368G>C
NM_001286060.2:c.53C>G MANE Select	NP_001272989.1:p.Ala18Gly
NM_001286059.2:c.53C>G	NP_001272988.1:p.Ala18Gly
NM_014488.5:c.53C>G	NP_055303.2:p.Ala18Gly