Canonical Allele Identifier: CA10635197

Gene: MYO3A

Linked Data

• ClinVar Variation Id: 299656
• ClinVar RCV Id: RCV000349667
• dbSNP Id: rs886046922
• gnomAD v2: 10-26385330-T-C
• gnomAD v3: 10-26096401-T-C
• gnomAD v4: 10-26096401-T-C
• MyVariant Identifiers: chr10:g.26385330T>C (hg19) ; chr10:g.26096401T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26096401T>C , CM000672.2:g.26096401T>C	GRCh38
NC_000010.10:g.26385330T>C , CM000672.1:g.26385330T>C	GRCh37
NC_000010.9:g.26425336T>C	NCBI36
NG_011635.1:g.167329T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000642197.1:n.1787T>C
ENST00000642920.2:c.1583T>C MANE Select	ENSP00000495965.1:p.Ile528Thr
ENST00000647478.1:c.1583T>C	ENSP00000493932.1:p.Ile528Thr
ENST00000265944.9:c.1583T>C	ENSP00000265944.4:p.Ile528Thr
ENST00000543632.5:c.1583T>C	ENSP00000445909.1:p.Ile528Thr
NM_017433.4:c.1583T>C	NP_059129.3:p.Ile528Thr
XM_011519498.1:c.1583T>C	XP_011517800.1:p.Ile528Thr
XM_011519499.1:c.1583T>C	XP_011517801.1:p.Ile528Thr
XM_011519500.1:c.1583T>C	XP_011517802.1:p.Ile528Thr
XM_011519501.1:c.1583T>C	XP_011517803.1:p.Ile528Thr
XM_011519502.1:c.1583T>C	XP_011517804.1:p.Ile528Thr
XM_011519503.1:c.1583T>C	XP_011517805.1:p.Ile528Thr
XM_011519504.1:c.1583T>C	XP_011517806.1:p.Ile528Thr
XM_011519505.1:c.1583T>C	XP_011517807.1:p.Ile528Thr
XM_011519506.1:c.1583T>C	XP_011517808.1:p.Ile528Thr
XM_011519507.1:c.1220T>C	XP_011517809.1:p.Ile407Thr
XM_011519508.1:c.1583T>C	XP_011517810.1:p.Ile528Thr
XM_011519509.1:c.1583T>C	XP_011517811.1:p.Ile528Thr
XM_011519510.1:c.1583T>C	XP_011517812.1:p.Ile528Thr
XM_011519511.1:c.1583T>C	XP_011517813.1:p.Ile528Thr
XR_930492.1:n.1787T>C
XR_930493.1:n.1787T>C
XR_930494.1:n.1787T>C
XM_011519498.2:c.1583T>C	XP_011517800.1:p.Ile528Thr
XM_011519500.2:c.1583T>C	XP_011517802.1:p.Ile528Thr
XM_011519506.2:c.1583T>C	XP_011517808.1:p.Ile528Thr
XM_011519508.2:c.1583T>C	XP_011517810.1:p.Ile528Thr
XM_011519510.2:c.1583T>C	XP_011517812.1:p.Ile528Thr
XM_011519511.2:c.1583T>C	XP_011517813.1:p.Ile528Thr
XR_001747111.1:n.1787T>C
NM_017433.5:c.1583T>C MANE Select	NP_059129.3:p.Ile528Thr