Canonical Allele Identifier: CA498430556

Gene: MYO15A

Linked Data

• gnomAD v4: 17-18149487-G-A
• MyVariant Identifiers: chr17:g.18052801G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18149487G>A , CM000679.2:g.18149487G>A	GRCh38
NC_000017.10:g.18052801G>A , CM000679.1:g.18052801G>A	GRCh37
NC_000017.9:g.17993526G>A	NCBI36
NG_011634.1:g.45782G>A
NG_011634.2:g.45782G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647165.2:c.7119G>A MANE Select	ENSP00000495481.1:p.Glu2373=
ENST00000205890.9:c.7119G>A	ENSP00000205890.5:p.Glu2373=
ENST00000578999.1:n.740G>A
ENST00000615845.4:c.7119G>A	ENSP00000481642.1:p.Glu2373=
NM_016239.3:c.7119G>A	NP_057323.3:p.Glu2373=
XM_011523917.1:c.6794G>A	XP_011522219.1:p.Ser2265Asn
XM_011523921.1:c.7113G>A	XP_011522223.1:p.Glu2371=
XR_934037.1:n.7453G>A
XR_934038.1:n.7405G>A
XR_934293.1:n.435-1881C>T
XR_934295.1:n.254-1881C>T
XM_017024714.2:c.7059G>A	XP_016880203.1:p.Glu2353=
XM_017024715.2:c.7122G>A	XP_016880204.1:p.Glu2374=
XR_934293.2:n.378-1881C>T
NM_016239.4:c.7119G>A MANE Select	NP_057323.3:p.Glu2373=