Canonical Allele Identifier: CA398607053

Gene: MYO15A

Linked Data

• dbSNP Id: rs2046473779
• gnomAD v4: 17-18146031-G-A
• MyVariant Identifiers: chr17:g.18049345G>A (hg19) ; chr17:g.18146031G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18146031G>A , CM000679.2:g.18146031G>A	GRCh38
NC_000017.10:g.18049345G>A , CM000679.1:g.18049345G>A	GRCh37
NC_000017.9:g.17990070G>A	NCBI36
NG_011634.1:g.42326G>A
NG_011634.2:g.42326G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647165.2:c.6433G>A MANE Select	ENSP00000495481.1:p.Glu2145Lys
ENST00000205890.9:c.6433G>A	ENSP00000205890.5:p.Glu2145Lys
ENST00000578999.1:n.18G>A
ENST00000615845.4:c.6433G>A	ENSP00000481642.1:p.Glu2145Lys
NM_016239.3:c.6433G>A	NP_057323.3:p.Glu2145Lys
XM_011523917.1:c.6373G>A	XP_011522219.1:p.Glu2125Lys
XM_011523918.1:c.6342+31G>A	XP_011522220.1:n.6342+31G>A
XM_011523921.1:c.6427G>A	XP_011522223.1:p.Glu2143Lys
XR_934037.1:n.7032G>A
XR_934038.1:n.7032G>A
XM_011523918.2:c.6342+31G>A	XP_011522220.1:n.6342+31G>A
XM_017024714.2:c.6373G>A	XP_016880203.1:p.Glu2125Lys
XM_017024715.2:c.6436G>A	XP_016880204.1:p.Glu2146Lys
XM_024450781.1:c.6213+1439G>A	XP_024306549.1:n.6213+1439G>A
NM_016239.4:c.6433G>A MANE Select	NP_057323.3:p.Glu2145Lys