Canonical Allele Identifier: CA204374385

Gene: MYO3A

Linked Data

• dbSNP Id: rs2096176
• gnomAD v2: 10-26433366-C-T
• gnomAD v3: 10-26144437-C-T
• gnomAD v4: 10-26144437-C-T
• MyVariant Identifiers: chr10:g.26433366C>T (hg19) ; chr10:g.26144437C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26144437C>T , CM000672.2:g.26144437C>T	GRCh38
NC_000010.10:g.26433366C>T , CM000672.1:g.26433366C>T	GRCh37
NC_000010.9:g.26473372C>T	NCBI36
NG_011635.1:g.215365C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000642197.1:n.2620+836C>T
ENST00000642920.2:c.2416+836C>T MANE Select	ENSP00000495965.1:n.2416+836C>T
ENST00000647478.1:c.*411+836C>T	ENSP00000493932.1:n.*411+836C>T
ENST00000265944.9:c.2416+836C>T	ENSP00000265944.4:n.2416+836C>T
ENST00000543632.5:c.1776+47755C>T	ENSP00000445909.1:n.1776+47755C>T
NM_017433.4:c.2416+836C>T	NP_059129.3:n.2416+836C>T
XM_011519498.1:c.2416+836C>T	XP_011517800.1:n.2416+836C>T
XM_011519499.1:c.2416+836C>T	XP_011517801.1:n.2416+836C>T
XM_011519500.1:c.2416+836C>T	XP_011517802.1:n.2416+836C>T
XM_011519501.1:c.2416+836C>T	XP_011517803.1:n.2416+836C>T
XM_011519502.1:c.2416+836C>T	XP_011517804.1:n.2416+836C>T
XM_011519503.1:c.2416+836C>T	XP_011517805.1:n.2416+836C>T
XM_011519504.1:c.2416+836C>T	XP_011517806.1:n.2416+836C>T
XM_011519505.1:c.2416+836C>T	XP_011517807.1:n.2416+836C>T
XM_011519506.1:c.2416+836C>T	XP_011517808.1:n.2416+836C>T
XM_011519507.1:c.2053+836C>T	XP_011517809.1:n.2053+836C>T
XM_011519508.1:c.2416+836C>T	XP_011517810.1:n.2416+836C>T
XM_011519509.1:c.2416+836C>T	XP_011517811.1:n.2416+836C>T
XM_011519510.1:c.2416+836C>T	XP_011517812.1:n.2416+836C>T
XM_011519511.1:c.2416+836C>T	XP_011517813.1:n.2416+836C>T
XM_011519512.1:c.544+836C>T	XP_011517814.1:n.544+836C>T
XM_011519513.1:c.85+836C>T	XP_011517815.1:n.85+836C>T
XR_930492.1:n.2620+836C>T
XR_930493.1:n.2620+836C>T
XR_930494.1:n.2620+836C>T
XM_011519498.2:c.2416+836C>T	XP_011517800.1:n.2416+836C>T
XM_011519500.2:c.2416+836C>T	XP_011517802.1:n.2416+836C>T
XM_011519506.2:c.2416+836C>T	XP_011517808.1:n.2416+836C>T
XM_011519508.2:c.2416+836C>T	XP_011517810.1:n.2416+836C>T
XM_011519510.2:c.2416+836C>T	XP_011517812.1:n.2416+836C>T
XM_011519511.2:c.2416+836C>T	XP_011517813.1:n.2416+836C>T
XM_011519513.2:c.85+836C>T	XP_011517815.1:n.85+836C>T
XR_001747111.1:n.2620+836C>T
NM_017433.5:c.2416+836C>T MANE Select	NP_059129.3:n.2416+836C>T