Canonical Allele Identifier: CA926095212

Gene: MYO3A

Linked Data

• dbSNP Id: rs1038807679
• gnomAD v3: 10-26212433-G-C
• gnomAD v4: 10-26212433-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26212433G>C , CM000672.2:g.26212433G>C	GRCh38
NC_000010.10:g.26501362G>C , CM000672.1:g.26501362G>C	GRCh37
NC_000010.9:g.26541368G>C	NCBI36
NG_011635.1:g.283361G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642920.2:c.*470G>C MANE Select	ENSP00000495965.1:n.*470G>C
ENST00000265944.9:c.*470G>C	ENSP00000265944.4:n.*470G>C
NM_017433.4:c.*470G>C	NP_059129.3:n.*470G>C
XM_011519498.1:c.*470G>C	XP_011517800.1:n.*470G>C
XM_011519499.1:c.*470G>C	XP_011517801.1:n.*470G>C
XM_011519500.1:c.*470G>C	XP_011517802.1:n.*470G>C
XM_011519501.1:c.*470G>C	XP_011517803.1:n.*470G>C
XM_011519504.1:c.*372G>C	XP_011517806.1:n.*372G>C
XM_011519505.1:c.*470G>C	XP_011517807.1:n.*470G>C
XM_011519507.1:c.*470G>C	XP_011517809.1:n.*470G>C
XM_011519512.1:c.*470G>C	XP_011517814.1:n.*470G>C
XM_011519513.1:c.*470G>C	XP_011517815.1:n.*470G>C
XR_930493.1:n.5418G>C
XM_011519498.2:c.*470G>C	XP_011517800.1:n.*470G>C
XM_011519500.2:c.*470G>C	XP_011517802.1:n.*470G>C
XM_011519513.2:c.*470G>C	XP_011517815.1:n.*470G>C
XR_001747111.1:n.4378G>C
NM_017433.5:c.*470G>C MANE Select	NP_059129.3:n.*470G>C