Canonical Allele Identifier: CA1897808505

Gene: MYO3A

Linked Data

• dbSNP Id: rs1836029091
• gnomAD v3: 10-25935839-T-A
• gnomAD v4: 10-25935839-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.25935839T>A , CM000672.2:g.25935839T>A	GRCh38
NC_000010.10:g.26224768T>A , CM000672.1:g.26224768T>A	GRCh37
NC_000010.9:g.26264774T>A	NCBI36
NG_011635.1:g.6767T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000642197.1:n.187+9T>A
ENST00000642920.2:c.-18+9T>A MANE Select	ENSP00000495965.1:n.-18+9T>A
ENST00000647478.1:c.-18+9T>A	ENSP00000493932.1:n.-18+9T>A
ENST00000265944.9:c.-18+9T>A	ENSP00000265944.4:n.-18+9T>A
ENST00000376302.5:c.-18+9T>A	ENSP00000365479.1:n.-18+9T>A
ENST00000543632.5:c.-18+9T>A	ENSP00000445909.1:n.-18+9T>A
NM_017433.4:c.-18+9T>A	NP_059129.3:n.-18+9T>A
XM_011519498.1:c.-18+9T>A	XP_011517800.1:n.-18+9T>A
XM_011519499.1:c.-18+9T>A	XP_011517801.1:n.-18+9T>A
XM_011519500.1:c.-75+9T>A	XP_011517802.1:n.-75+9T>A
XM_011519501.1:c.-18+1511T>A	XP_011517803.1:n.-18+1511T>A
XM_011519502.1:c.-18+9T>A	XP_011517804.1:n.-18+9T>A
XM_011519503.1:c.-18+9T>A	XP_011517805.1:n.-18+9T>A
XM_011519504.1:c.-18+9T>A	XP_011517806.1:n.-18+9T>A
XM_011519505.1:c.-18+9T>A	XP_011517807.1:n.-18+9T>A
XM_011519506.1:c.-18+9T>A	XP_011517808.1:n.-18+9T>A
XM_011519508.1:c.-18+9T>A	XP_011517810.1:n.-18+9T>A
XM_011519509.1:c.-18+9T>A	XP_011517811.1:n.-18+9T>A
XM_011519510.1:c.-18+9T>A	XP_011517812.1:n.-18+9T>A
XM_011519511.1:c.-18+9T>A	XP_011517813.1:n.-18+9T>A
XR_930492.1:n.187+9T>A
XR_930493.1:n.187+9T>A
XR_930494.1:n.187+9T>A
XM_011519498.2:c.-18+9T>A	XP_011517800.1:n.-18+9T>A
XM_011519500.2:c.-75+9T>A	XP_011517802.1:n.-75+9T>A
XM_011519506.2:c.-18+9T>A	XP_011517808.1:n.-18+9T>A
XM_011519508.2:c.-18+9T>A	XP_011517810.1:n.-18+9T>A
XM_011519510.2:c.-18+9T>A	XP_011517812.1:n.-18+9T>A
XM_011519511.2:c.-18+9T>A	XP_011517813.1:n.-18+9T>A
XR_001747111.1:n.187+9T>A
NM_017433.5:c.-18+9T>A MANE Select	NP_059129.3:n.-18+9T>A
NM_001368265.1:c.-18+9T>A	NP_001355194.1:n.-18+9T>A