Canonical Allele Identifier: CA8424074

Gene: MYO15A

Linked Data

• ClinVar Variation Id: 2982115
• ClinVar RCV Id: RCV003842761
• dbSNP Id: rs780331803
• ExAC: 17:18041410 T / C
• gnomAD v2: 17-18041410-T-C
• gnomAD v3: 17-18138096-T-C
• gnomAD v4: 17-18138096-T-C
• MyVariant Identifiers: chr17:g.18041410T>C (hg19) ; chr17:g.18138096T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18138096T>C , CM000679.2:g.18138096T>C	GRCh38
NC_000017.10:g.18041410T>C , CM000679.1:g.18041410T>C	GRCh37
NC_000017.9:g.17982135T>C	NCBI36
NG_011634.1:g.34391T>C
NG_011634.2:g.34391T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000646238.1:n.140-19T>C
ENST00000647165.2:c.4876-19T>C MANE Select	ENSP00000495481.1:n.4876-19T>C
ENST00000205890.9:c.4876-19T>C	ENSP00000205890.5:n.4876-19T>C
ENST00000615845.4:c.4876-19T>C	ENSP00000481642.1:n.4876-19T>C
NM_016239.3:c.4876-19T>C	NP_057323.3:n.4876-19T>C
XM_011523917.1:c.4870-19T>C	XP_011522219.1:n.4870-19T>C
XM_011523918.1:c.4870-19T>C	XP_011522220.1:n.4870-19T>C
XM_011523919.1:c.4870-19T>C	XP_011522221.1:n.4870-19T>C
XM_011523920.1:c.4870-19T>C	XP_011522222.1:n.4870-19T>C
XM_011523921.1:c.4870-19T>C	XP_011522223.1:n.4870-19T>C
XR_934037.1:n.5529-19T>C
XR_934038.1:n.5529-19T>C
XR_934039.1:n.5529-19T>C
XM_011523918.2:c.4870-19T>C	XP_011522220.1:n.4870-19T>C
XM_017024714.2:c.4870-19T>C	XP_016880203.1:n.4870-19T>C
XM_017024715.2:c.4879-19T>C	XP_016880204.1:n.4879-19T>C
XM_024450780.1:c.4870-19T>C	XP_024306548.1:n.4870-19T>C
XM_024450781.1:c.4870-19T>C	XP_024306549.1:n.4870-19T>C
XM_024450782.1:c.4870-19T>C	XP_024306550.1:n.4870-19T>C
XR_934039.2:n.5568-19T>C
NM_016239.4:c.4876-19T>C MANE Select	NP_057323.3:n.4876-19T>C