Canonical Allele Identifier: CA8425104

Gene: MYO15A

Linked Data

• ClinVar Variation Id: 322170
• ClinVar RCV Id: RCV000333765 ; RCV000825967 ; RCV002521098
• dbSNP Id: rs374160194
• ExAC: 17:18058438 G / A
• gnomAD v2: 17-18058438-G-A
• gnomAD v3: 17-18155124-G-A
• gnomAD v4: 17-18155124-G-A
• MyVariant Identifiers: chr17:g.18058438G>A (hg19) ; chr17:g.18155124G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18155124G>A , CM000679.2:g.18155124G>A	GRCh38
NC_000017.10:g.18058438G>A , CM000679.1:g.18058438G>A	GRCh37
NC_000017.9:g.17999163G>A	NCBI36
NG_011634.1:g.51419G>A
NG_011634.2:g.51419G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642418.1:n.86G>A
ENST00000644795.1:c.31G>A	ENSP00000495720.1:p.Asp11Asn
ENST00000646782.1:n.394G>A
ENST00000647165.2:c.8239G>A MANE Select	ENSP00000495481.1:p.Asp2747Asn
ENST00000651214.1:n.385G>A
ENST00000205890.9:c.8239G>A	ENSP00000205890.5:p.Asp2747Asn
ENST00000418233.7:c.31G>A	ENSP00000408800.3:p.Asp11Asn
ENST00000445289.6:n.137+934G>A
ENST00000536811.5:n.152G>A
ENST00000585180.1:c.31G>A	ENSP00000464462.1:p.Asp11Asn
ENST00000615845.4:c.8239G>A	ENSP00000481642.1:p.Asp2747Asn
NM_016239.3:c.8239G>A	NP_057323.3:p.Asp2747Asn
XM_011523921.1:c.8233G>A	XP_011522223.1:p.Asp2745Asn
XM_017024714.2:c.8179G>A	XP_016880203.1:p.Asp2727Asn
XM_017024715.2:c.8242G>A	XP_016880204.1:p.Asp2748Asn
XR_001752809.1:n.89+128C>T
XR_001752810.1:n.89+128C>T
NM_016239.4:c.8239G>A MANE Select	NP_057323.3:p.Asp2747Asn