Canonical Allele Identifier: CA288391495

Gene: MYO15A

Linked Data

• dbSNP Id: rs915955787
• gnomAD v2: 17-18027592-G-C
• gnomAD v3: 17-18124278-G-C
• gnomAD v4: 17-18124278-G-C
• MyVariant Identifiers: chr17:g.18027592G>C (hg19) ; chr17:g.18124278G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18124278G>C , CM000679.2:g.18124278G>C	GRCh38
NC_000017.10:g.18027592G>C , CM000679.1:g.18027592G>C	GRCh37
NC_000017.9:g.17968317G>C	NCBI36
NG_011634.1:g.20573G>C
NG_011634.2:g.20573G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647165.2:c.3610-205G>C MANE Select	ENSP00000495481.1:n.3610-205G>C
ENST00000651088.1:c.151-205G>C	ENSP00000498988.1:n.151-205G>C
ENST00000205890.9:c.3610-205G>C	ENSP00000205890.5:n.3610-205G>C
ENST00000583079.1:n.5111G>C
ENST00000615845.4:c.3610-205G>C	ENSP00000481642.1:n.3610-205G>C
NM_016239.3:c.3610-205G>C	NP_057323.3:n.3610-205G>C
XM_011523917.1:c.3610-205G>C	XP_011522219.1:n.3610-205G>C
XM_011523918.1:c.3610-205G>C	XP_011522220.1:n.3610-205G>C
XM_011523919.1:c.3610-205G>C	XP_011522221.1:n.3610-205G>C
XM_011523920.1:c.3610-205G>C	XP_011522222.1:n.3610-205G>C
XM_011523921.1:c.3610-205G>C	XP_011522223.1:n.3610-205G>C
XR_934037.1:n.4269-205G>C
XR_934038.1:n.4269-205G>C
XR_934039.1:n.4269-205G>C
XM_011523918.2:c.3610-205G>C	XP_011522220.1:n.3610-205G>C
XM_017024714.2:c.3610-205G>C	XP_016880203.1:n.3610-205G>C
XM_017024715.2:c.3610-205G>C	XP_016880204.1:n.3610-205G>C
XM_024450780.1:c.3610-205G>C	XP_024306548.1:n.3610-205G>C
XM_024450781.1:c.3610-205G>C	XP_024306549.1:n.3610-205G>C
XM_024450782.1:c.3610-205G>C	XP_024306550.1:n.3610-205G>C
XR_934039.2:n.4308-205G>C
NM_016239.4:c.3610-205G>C MANE Select	NP_057323.3:n.3610-205G>C