Canonical Allele Identifier: CA8424480

Gene: MYO15A

Linked Data

• ClinVar Variation Id: 1638733
• ClinVar RCV Id: RCV002150521
• dbSNP Id: rs774770471
• ExAC: 17:18047129 G / C
• gnomAD v2: 17-18047129-G-C
• gnomAD v3: 17-18143815-G-C
• gnomAD v4: 17-18143815-G-C
• MyVariant Identifiers: chr17:g.18047129G>C (hg19) ; chr17:g.18143815G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18143815G>C , CM000679.2:g.18143815G>C	GRCh38
NC_000017.10:g.18047129G>C , CM000679.1:g.18047129G>C	GRCh37
NC_000017.9:g.17987854G>C	NCBI36
NG_011634.1:g.40110G>C
NG_011634.2:g.40110G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647165.2:c.6046+19G>C MANE Select	ENSP00000495481.1:n.6046+19G>C
ENST00000205890.9:c.6046+19G>C	ENSP00000205890.5:n.6046+19G>C
ENST00000615845.4:c.6046+19G>C	ENSP00000481642.1:n.6046+19G>C
NM_016239.3:c.6046+19G>C	NP_057323.3:n.6046+19G>C
XM_011523917.1:c.5986+19G>C	XP_011522219.1:n.5986+19G>C
XM_011523918.1:c.5986+19G>C	XP_011522220.1:n.5986+19G>C
XM_011523919.1:c.5986+19G>C	XP_011522221.1:n.5986+19G>C
XM_011523921.1:c.6040+19G>C	XP_011522223.1:n.6040+19G>C
XR_934037.1:n.6645+19G>C
XR_934038.1:n.6645+19G>C
XM_011523918.2:c.5986+19G>C	XP_011522220.1:n.5986+19G>C
XM_017024714.2:c.5986+19G>C	XP_016880203.1:n.5986+19G>C
XM_017024715.2:c.6049+19G>C	XP_016880204.1:n.6049+19G>C
XM_024450780.1:c.5986+19G>C	XP_024306548.1:n.5986+19G>C
XM_024450781.1:c.5986+19G>C	XP_024306549.1:n.5986+19G>C
NM_016239.4:c.6046+19G>C MANE Select	NP_057323.3:n.6046+19G>C