Canonical Allele Identifier: CA376341243

Gene: MYO3A

Linked Data

• dbSNP Id: rs1255202742
• gnomAD v2: 10-26414343-C-A
• MyVariant Identifiers: chr10:g.26414343C>A (hg19) ; chr10:g.26125414C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26125414C>A , CM000672.2:g.26125414C>A	GRCh38
NC_000010.10:g.26414343C>A , CM000672.1:g.26414343C>A	GRCh37
NC_000010.9:g.26454349C>A	NCBI36
NG_011635.1:g.196342C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642197.1:n.2124C>A
ENST00000642920.2:c.1920C>A MANE Select	ENSP00000495965.1:p.Cys640Ter
ENST00000647478.1:c.1793C>A	ENSP00000493932.1:p.Ala598Glu
ENST00000265944.9:c.1920C>A	ENSP00000265944.4:p.Cys640Ter
ENST00000543632.5:c.1776+28732C>A	ENSP00000445909.1:n.1776+28732C>A
NM_017433.4:c.1920C>A	NP_059129.3:p.Cys640Ter
XM_011519498.1:c.1920C>A	XP_011517800.1:p.Cys640Ter
XM_011519499.1:c.1920C>A	XP_011517801.1:p.Cys640Ter
XM_011519500.1:c.1920C>A	XP_011517802.1:p.Cys640Ter
XM_011519501.1:c.1920C>A	XP_011517803.1:p.Cys640Ter
XM_011519502.1:c.1920C>A	XP_011517804.1:p.Cys640Ter
XM_011519503.1:c.1920C>A	XP_011517805.1:p.Cys640Ter
XM_011519504.1:c.1920C>A	XP_011517806.1:p.Cys640Ter
XM_011519505.1:c.1920C>A	XP_011517807.1:p.Cys640Ter
XM_011519506.1:c.1920C>A	XP_011517808.1:p.Cys640Ter
XM_011519507.1:c.1557C>A	XP_011517809.1:p.Cys519Ter
XM_011519508.1:c.1920C>A	XP_011517810.1:p.Cys640Ter
XM_011519509.1:c.1920C>A	XP_011517811.1:p.Cys640Ter
XM_011519510.1:c.1920C>A	XP_011517812.1:p.Cys640Ter
XM_011519511.1:c.1920C>A	XP_011517813.1:p.Cys640Ter
XM_011519512.1:c.48C>A	XP_011517814.1:p.Cys16Ter
XR_930492.1:n.2124C>A
XR_930493.1:n.2124C>A
XR_930494.1:n.2124C>A
XM_011519498.2:c.1920C>A	XP_011517800.1:p.Cys640Ter
XM_011519500.2:c.1920C>A	XP_011517802.1:p.Cys640Ter
XM_011519506.2:c.1920C>A	XP_011517808.1:p.Cys640Ter
XM_011519508.2:c.1920C>A	XP_011517810.1:p.Cys640Ter
XM_011519510.2:c.1920C>A	XP_011517812.1:p.Cys640Ter
XM_011519511.2:c.1920C>A	XP_011517813.1:p.Cys640Ter
XR_001747111.1:n.2124C>A
NM_017433.5:c.1920C>A MANE Select	NP_059129.3:p.Cys640Ter