Canonical Allele Identifier: CA10631503

Gene: MYO3A

Linked Data

• ClinVar Variation Id: 299673
• ClinVar RCV Id: RCV000259746
• dbSNP Id: rs541189709
• gnomAD v2: 10-26462950-T-C
• gnomAD v3: 10-26174021-T-C
• gnomAD v4: 10-26174021-T-C
• MyVariant Identifiers: chr10:g.26462950T>C (hg19) ; chr10:g.26174021T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26174021T>C , CM000672.2:g.26174021T>C	GRCh38
NC_000010.10:g.26462950T>C , CM000672.1:g.26462950T>C	GRCh37
NC_000010.9:g.26502956T>C	NCBI36
NG_011635.1:g.244949T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000642920.2:c.3757T>C MANE Select	ENSP00000495965.1:p.Ser1253Pro
ENST00000647478.1:c.*1393+3482T>C	ENSP00000493932.1:n.*1393+3482T>C
ENST00000265944.9:c.3757T>C	ENSP00000265944.4:p.Ser1253Pro
ENST00000543632.5:c.1777-37822T>C	ENSP00000445909.1:n.1777-37822T>C
NM_017433.4:c.3757T>C	NP_059129.3:p.Ser1253Pro
XM_011519498.1:c.3757T>C	XP_011517800.1:p.Ser1253Pro
XM_011519499.1:c.3757T>C	XP_011517801.1:p.Ser1253Pro
XM_011519500.1:c.3757T>C	XP_011517802.1:p.Ser1253Pro
XM_011519501.1:c.3757T>C	XP_011517803.1:p.Ser1253Pro
XM_011519502.1:c.3757T>C	XP_011517804.1:p.Ser1253Pro
XM_011519503.1:c.3757T>C	XP_011517805.1:p.Ser1253Pro
XM_011519504.1:c.3757T>C	XP_011517806.1:p.Ser1253Pro
XM_011519505.1:c.3757T>C	XP_011517807.1:p.Ser1253Pro
XM_011519506.1:c.3757T>C	XP_011517808.1:p.Ser1253Pro
XM_011519507.1:c.3394T>C	XP_011517809.1:p.Ser1132Pro
XM_011519508.1:c.3757T>C	XP_011517810.1:p.Ser1253Pro
XM_011519510.1:c.3398+3482T>C	XP_011517812.1:n.3398+3482T>C
XM_011519512.1:c.1885T>C	XP_011517814.1:p.Ser629Pro
XM_011519513.1:c.1426T>C	XP_011517815.1:p.Ser476Pro
XR_930492.1:n.3961T>C
XR_930493.1:n.3961T>C
XR_930494.1:n.3961T>C
XM_011519498.2:c.3757T>C	XP_011517800.1:p.Ser1253Pro
XM_011519500.2:c.3757T>C	XP_011517802.1:p.Ser1253Pro
XM_011519506.2:c.3757T>C	XP_011517808.1:p.Ser1253Pro
XM_011519508.2:c.3757T>C	XP_011517810.1:p.Ser1253Pro
XM_011519510.2:c.3398+3482T>C	XP_011517812.1:n.3398+3482T>C
XM_011519513.2:c.1426T>C	XP_011517815.1:p.Ser476Pro
XR_001747111.1:n.3602+3482T>C
NM_017433.5:c.3757T>C MANE Select	NP_059129.3:p.Ser1253Pro