Canonical Allele Identifier: CA10141522

Gene: RAB36 RSPH14

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23160908G>A , CM000684.2:g.23160908G>A	GRCh38
NC_000022.10:g.23503095G>A , CM000684.1:g.23503095G>A	GRCh37
NC_000022.9:g.21833095G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_004914.5:c.649G>A (RAB36) MANE Select	NP_004905.3:p.Val217Ile
ENST00000263116.8:c.649G>A (RAB36) MANE Select	ENSP00000263116.3:p.Val217Ile
NM_001349877.1:c.919G>A (RAB36)	NP_001336806.1:p.Val307Ile
NM_001349878.1:c.827G>A (RAB36)	NP_001336807.1:p.Arg276His
NM_004914.2:c.847G>A (RAB36)	NP_004905.2:p.Val283Ile
NM_004914.4:c.847G>A (RAB36)	NP_004905.2:p.Val283Ile
NR_146295.1:n.804G>A (RAB36)
NR_146295.2:n.651G>A (RAB36)
NR_146295.3:n.651G>A (RAB36)
ENST00000263116.6:c.847G>A (RAB36)	ENSP00000263116.2:p.Val283Ile
ENST00000263116.7:c.649G>A (RAB36)	ENSP00000263116.3:p.Val217Ile
ENST00000341989.8:c.781G>A (RAB36)	ENSP00000343494.4:p.Val261Ile
ENST00000341989.9:c.583G>A (RAB36)	ENSP00000343494.5:p.Val195Ile
XM_005261859.3:c.919G>A (RAB36)	XP_005261916.1:p.Val307Ile
XM_006724381.2:c.899G>A (RAB36)	XP_006724444.1:p.Arg300His
XM_006724381.4:c.899G>A (RAB36)	XP_006724444.1:p.Arg300His
XM_006724382.2:c.827G>A (RAB36)	XP_006724445.1:p.Arg276His
XM_011530544.1:c.895G>A (RAB36)	XP_011528846.1:p.Val299Ile
XM_011530544.3:c.895G>A (RAB36)	XP_011528846.1:p.Val299Ile
XM_011530545.1:c.919G>A (RAB36)	XP_011528847.1:p.Val307Ile
XM_011530545.2:c.919G>A (RAB36)	XP_011528847.1:p.Val307Ile
XM_011530546.1:c.899G>A (RAB36)	XP_011528848.1:p.Arg300His
XM_011530546.2:c.899G>A (RAB36)	XP_011528848.1:p.Arg300His
XM_011530547.1:c.746G>A (RAB36)	XP_011528849.1:p.Arg249His
XM_011530547.2:c.746G>A (RAB36)	XP_011528849.1:p.Arg249His
XM_011530549.1:c.*18G>A (RAB36)	XP_011528851.1:n.*18G>A
XM_011530552.1:c.353G>A (RAB36)	XP_011528854.1:p.Arg118His
XM_011530552.2:c.353G>A (RAB36)	XP_011528854.1:p.Arg118His
XM_017028774.1:c.-53+19010C>T (RSPH14)	XP_016884263.1:n.-53+19010C>T
XM_017029104.1:c.818G>A (RAB36)	XP_016884593.1:p.Arg273His
XM_017029105.1:c.766G>A (RAB36)	XP_016884594.1:p.Val256Ile
XM_017029106.1:c.521G>A (RAB36)	XP_016884595.1:p.Arg174His
XM_017029107.1:c.515G>A (RAB36)	XP_016884596.1:p.Arg172His
XR_001755380.2:n.975G>A (RAB36)
XR_001755381.2:n.889G>A (RAB36)
XR_001755383.1:n.811G>A (RAB36)
XR_001755384.1:n.735G>A (RAB36)
XR_001755385.1:n.922G>A (RAB36)
XR_001755386.1:n.831G>A (RAB36)
XR_001755387.1:n.845G>A (RAB36)