Canonical Allele Identifier: CA8424734

Gene: MYO15A

Linked Data

• dbSNP Id: rs781218474
• ExAC: 17:18052730 C / A
• gnomAD v2: 17-18052730-C-A
• gnomAD v3: 17-18149416-C-A
• gnomAD v4: 17-18149416-C-A
• MyVariant Identifiers: chr17:g.18052730C>A (hg19) ; chr17:g.18149416C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18149416C>A , CM000679.2:g.18149416C>A	GRCh38
NC_000017.10:g.18052730C>A , CM000679.1:g.18052730C>A	GRCh37
NC_000017.9:g.17993455C>A	NCBI36
NG_011634.1:g.45711C>A
NG_011634.2:g.45711C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647165.2:c.7117+40C>A MANE Select	ENSP00000495481.1:n.7117+40C>A
ENST00000205890.9:c.7117+40C>A	ENSP00000205890.5:n.7117+40C>A
ENST00000578999.1:n.669C>A
ENST00000615845.4:c.7117+40C>A	ENSP00000481642.1:n.7117+40C>A
NM_016239.3:c.7117+40C>A	NP_057323.3:n.7117+40C>A
XM_011523917.1:c.6792+40C>A	XP_011522219.1:n.6792+40C>A
XM_011523921.1:c.7111+40C>A	XP_011522223.1:n.7111+40C>A
XR_934037.1:n.7451+40C>A
XR_934038.1:n.7404-70C>A
XR_934293.1:n.435-1810G>T
XR_934295.1:n.254-1810G>T
XM_017024714.2:c.7057+40C>A	XP_016880203.1:n.7057+40C>A
XM_017024715.2:c.7120+40C>A	XP_016880204.1:n.7120+40C>A
XR_934293.2:n.378-1810G>T
NM_016239.4:c.7117+40C>A MANE Select	NP_057323.3:n.7117+40C>A