Canonical Allele Identifier: CA2608578811

Gene: MYO3A

Linked Data

• gnomAD v4: 10-26212146-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26212146G>A , CM000672.2:g.26212146G>A	GRCh38
NC_000010.10:g.26501075G>A , CM000672.1:g.26501075G>A	GRCh37
NC_000010.9:g.26541081G>A	NCBI36
NG_011635.1:g.283074G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000642920.2:c.*183G>A MANE Select	ENSP00000495965.1:n.*183G>A
ENST00000644253.1:n.700G>A
ENST00000645292.1:n.494G>A
ENST00000647478.1:c.*1845G>A	ENSP00000493932.1:n.*1845G>A
ENST00000265944.9:c.*183G>A	ENSP00000265944.4:n.*183G>A
ENST00000543632.5:c.*85G>A	ENSP00000445909.1:n.*85G>A
NM_017433.4:c.*183G>A	NP_059129.3:n.*183G>A
XM_011519498.1:c.*183G>A	XP_011517800.1:n.*183G>A
XM_011519499.1:c.*183G>A	XP_011517801.1:n.*183G>A
XM_011519500.1:c.*183G>A	XP_011517802.1:n.*183G>A
XM_011519501.1:c.*183G>A	XP_011517803.1:n.*183G>A
XM_011519504.1:c.*85G>A	XP_011517806.1:n.*85G>A
XM_011519505.1:c.*183G>A	XP_011517807.1:n.*183G>A
XM_011519507.1:c.*183G>A	XP_011517809.1:n.*183G>A
XM_011519512.1:c.*183G>A	XP_011517814.1:n.*183G>A
XM_011519513.1:c.*183G>A	XP_011517815.1:n.*183G>A
XR_930493.1:n.5131G>A
XM_011519498.2:c.*183G>A	XP_011517800.1:n.*183G>A
XM_011519500.2:c.*183G>A	XP_011517802.1:n.*183G>A
XM_011519513.2:c.*183G>A	XP_011517815.1:n.*183G>A
XR_001747111.1:n.4091G>A
NM_017433.5:c.*183G>A MANE Select	NP_059129.3:n.*183G>A