Canonical Allele Identifier: CA137091

Gene: MYO3A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26193228A>G , CM000672.2:g.26193228A>G	GRCh38
NC_000010.10:g.26482157A>G , CM000672.1:g.26482157A>G	GRCh37
NC_000010.9:g.26522163A>G	NCBI36
NG_011635.1:g.264156A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642920.2:c.4462A>G MANE Select	ENSP00000495965.1:p.Lys1488Glu
ENST00000647478.1:c.*1417A>G	ENSP00000493932.1:n.*1417A>G
ENST00000265944.9:c.4462A>G	ENSP00000265944.4:p.Lys1488Glu
ENST00000543632.5:c.1777-18615A>G	ENSP00000445909.1:n.1777-18615A>G
NM_017433.4:c.4462A>G	NP_059129.3:p.Lys1488Glu
XM_011519498.1:c.4462A>G	XP_011517800.1:p.Lys1488Glu
XM_011519499.1:c.4462A>G	XP_011517801.1:p.Lys1488Glu
XM_011519500.1:c.4462A>G	XP_011517802.1:p.Lys1488Glu
XM_011519501.1:c.4462A>G	XP_011517803.1:p.Lys1488Glu
XM_011519502.1:c.4462A>G	XP_011517804.1:p.Lys1488Glu
XM_011519503.1:c.4462A>G	XP_011517805.1:p.Lys1488Glu
XM_011519504.1:c.4439-8037A>G	XP_011517806.1:n.4439-8037A>G
XM_011519505.1:c.4294-8037A>G	XP_011517807.1:n.4294-8037A>G
XM_011519506.1:c.4462A>G	XP_011517808.1:p.Lys1488Glu
XM_011519507.1:c.4099A>G	XP_011517809.1:p.Lys1367Glu
XM_011519510.1:c.*14A>G	XP_011517812.1:n.*14A>G
XM_011519512.1:c.2590A>G	XP_011517814.1:p.Lys864Glu
XM_011519513.1:c.2131A>G	XP_011517815.1:p.Lys711Glu
XR_930492.1:n.4666A>G
XR_930493.1:n.4643-8037A>G
XR_930494.1:n.4521A>G
XR_930759.1:n.521+304T>C
XM_011519498.2:c.4462A>G	XP_011517800.1:p.Lys1488Glu
XM_011519500.2:c.4462A>G	XP_011517802.1:p.Lys1488Glu
XM_011519506.2:c.4462A>G	XP_011517808.1:p.Lys1488Glu
XM_011519510.2:c.*14A>G	XP_011517812.1:n.*14A>G
XM_011519513.2:c.2131A>G	XP_011517815.1:p.Lys711Glu
XR_001747111.1:n.3603-8037A>G
NM_017433.5:c.4462A>G MANE Select	NP_059129.3:p.Lys1488Glu