Canonical Allele Identifier: CA926095194

Gene: MYO3A

Linked Data

• dbSNP Id: rs943290550
• gnomAD v3: 10-26212430-G-T
• gnomAD v4: 10-26212430-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26212430G>T , CM000672.2:g.26212430G>T	GRCh38
NC_000010.10:g.26501359G>T , CM000672.1:g.26501359G>T	GRCh37
NC_000010.9:g.26541365G>T	NCBI36
NG_011635.1:g.283358G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642920.2:c.*467G>T MANE Select	ENSP00000495965.1:n.*467G>T
ENST00000265944.9:c.*467G>T	ENSP00000265944.4:n.*467G>T
NM_017433.4:c.*467G>T	NP_059129.3:n.*467G>T
XM_011519498.1:c.*467G>T	XP_011517800.1:n.*467G>T
XM_011519499.1:c.*467G>T	XP_011517801.1:n.*467G>T
XM_011519500.1:c.*467G>T	XP_011517802.1:n.*467G>T
XM_011519501.1:c.*467G>T	XP_011517803.1:n.*467G>T
XM_011519504.1:c.*369G>T	XP_011517806.1:n.*369G>T
XM_011519505.1:c.*467G>T	XP_011517807.1:n.*467G>T
XM_011519507.1:c.*467G>T	XP_011517809.1:n.*467G>T
XM_011519512.1:c.*467G>T	XP_011517814.1:n.*467G>T
XM_011519513.1:c.*467G>T	XP_011517815.1:n.*467G>T
XR_930493.1:n.5415G>T
XM_011519498.2:c.*467G>T	XP_011517800.1:n.*467G>T
XM_011519500.2:c.*467G>T	XP_011517802.1:n.*467G>T
XM_011519513.2:c.*467G>T	XP_011517815.1:n.*467G>T
XR_001747111.1:n.4375G>T
NM_017433.5:c.*467G>T MANE Select	NP_059129.3:n.*467G>T