Canonical Allele Identifier: CA498430444

Gene: MYO15A

Linked Data

• gnomAD v4: 17-18145919-C-T
• MyVariant Identifiers: chr17:g.18049233C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18145919C>T , CM000679.2:g.18145919C>T	GRCh38
NC_000017.10:g.18049233C>T , CM000679.1:g.18049233C>T	GRCh37
NC_000017.9:g.17989958C>T	NCBI36
NG_011634.1:g.42214C>T
NG_011634.2:g.42214C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647165.2:c.6321C>T MANE Select	ENSP00000495481.1:p.Asn2107=
ENST00000205890.9:c.6321C>T	ENSP00000205890.5:p.Asn2107=
ENST00000615845.4:c.6321C>T	ENSP00000481642.1:p.Asn2107=
NM_016239.3:c.6321C>T	NP_057323.3:p.Asn2107=
XM_011523917.1:c.6261C>T	XP_011522219.1:p.Asn2087=
XM_011523918.1:c.6261C>T	XP_011522220.1:p.Asn2087=
XM_011523921.1:c.6315C>T	XP_011522223.1:p.Asn2105=
XR_934037.1:n.6920C>T
XR_934038.1:n.6920C>T
XM_011523918.2:c.6261C>T	XP_011522220.1:p.Asn2087=
XM_017024714.2:c.6261C>T	XP_016880203.1:p.Asn2087=
XM_017024715.2:c.6324C>T	XP_016880204.1:p.Asn2108=
XM_024450781.1:c.6213+1327C>T	XP_024306549.1:n.6213+1327C>T
NM_016239.4:c.6321C>T MANE Select	NP_057323.3:p.Asn2107=