Canonical Allele Identifier: CA398589000

Gene: MYO15A

Linked Data

• dbSNP Id: rs1299321315
• gnomAD v3: 17-18124490-C-G
• gnomAD v4: 17-18124490-C-G
• MyVariant Identifiers: chr17:g.18027804C>G (hg19) ; chr17:g.18124490C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18124490C>G , CM000679.2:g.18124490C>G	GRCh38
NC_000017.10:g.18027804C>G , CM000679.1:g.18027804C>G	GRCh37
NC_000017.9:g.17968529C>G	NCBI36
NG_011634.1:g.20785C>G
NG_011634.2:g.20785C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647165.2:c.3617C>G MANE Select	ENSP00000495481.1:p.Ser1206Cys
ENST00000651088.1:c.158C>G	ENSP00000498988.1:p.Ser53Cys
ENST00000205890.9:c.3617C>G	ENSP00000205890.5:p.Ser1206Cys
ENST00000583079.1:n.5323C>G
ENST00000615845.4:c.3617C>G	ENSP00000481642.1:p.Ser1206Cys
NM_016239.3:c.3617C>G	NP_057323.3:p.Ser1206Cys
XM_011523917.1:c.3617C>G	XP_011522219.1:p.Ser1206Cys
XM_011523918.1:c.3617C>G	XP_011522220.1:p.Ser1206Cys
XM_011523919.1:c.3617C>G	XP_011522221.1:p.Ser1206Cys
XM_011523920.1:c.3617C>G	XP_011522222.1:p.Ser1206Cys
XM_011523921.1:c.3617C>G	XP_011522223.1:p.Ser1206Cys
XR_934037.1:n.4276C>G
XR_934038.1:n.4276C>G
XR_934039.1:n.4276C>G
XM_011523918.2:c.3617C>G	XP_011522220.1:p.Ser1206Cys
XM_017024714.2:c.3617C>G	XP_016880203.1:p.Ser1206Cys
XM_017024715.2:c.3617C>G	XP_016880204.1:p.Ser1206Cys
XM_024450780.1:c.3617C>G	XP_024306548.1:p.Ser1206Cys
XM_024450781.1:c.3617C>G	XP_024306549.1:p.Ser1206Cys
XM_024450782.1:c.3617C>G	XP_024306550.1:p.Ser1206Cys
XR_934039.2:n.4315C>G
NM_016239.4:c.3617C>G MANE Select	NP_057323.3:p.Ser1206Cys