Canonical Allele Identifier: CA2588521700

Gene: MYO3A

Linked Data

• dbSNP Id: rs2132259070
• gnomAD v3: 10-26212493-T-C
• gnomAD v4: 10-26212493-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26212493T>C , CM000672.2:g.26212493T>C	GRCh38
NC_000010.10:g.26501422T>C , CM000672.1:g.26501422T>C	GRCh37
NC_000010.9:g.26541428T>C	NCBI36
NG_011635.1:g.283421T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000642920.2:c.*530T>C MANE Select	ENSP00000495965.1:n.*530T>C
ENST00000265944.9:c.*530T>C	ENSP00000265944.4:n.*530T>C
NM_017433.4:c.*530T>C	NP_059129.3:n.*530T>C
XM_011519498.1:c.*530T>C	XP_011517800.1:n.*530T>C
XM_011519499.1:c.*530T>C	XP_011517801.1:n.*530T>C
XM_011519500.1:c.*530T>C	XP_011517802.1:n.*530T>C
XM_011519501.1:c.*530T>C	XP_011517803.1:n.*530T>C
XM_011519504.1:c.*432T>C	XP_011517806.1:n.*432T>C
XM_011519505.1:c.*530T>C	XP_011517807.1:n.*530T>C
XM_011519507.1:c.*530T>C	XP_011517809.1:n.*530T>C
XM_011519512.1:c.*530T>C	XP_011517814.1:n.*530T>C
XM_011519513.1:c.*530T>C	XP_011517815.1:n.*530T>C
XR_930493.1:n.5478T>C
XM_011519498.2:c.*530T>C	XP_011517800.1:n.*530T>C
XM_011519500.2:c.*530T>C	XP_011517802.1:n.*530T>C
XM_011519513.2:c.*530T>C	XP_011517815.1:n.*530T>C
XR_001747111.1:n.4438T>C
NM_017433.5:c.*530T>C MANE Select	NP_059129.3:n.*530T>C