Canonical Allele Identifier: CA2608578929

Gene: MYO3A

Linked Data

• gnomAD v4: 10-26212234-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26212234C>T , CM000672.2:g.26212234C>T	GRCh38
NC_000010.10:g.26501163C>T , CM000672.1:g.26501163C>T	GRCh37
NC_000010.9:g.26541169C>T	NCBI36
NG_011635.1:g.283162C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642920.2:c.*271C>T MANE Select	ENSP00000495965.1:n.*271C>T
ENST00000644253.1:n.788C>T
ENST00000645292.1:n.582C>T
ENST00000265944.9:c.*271C>T	ENSP00000265944.4:n.*271C>T
NM_017433.4:c.*271C>T	NP_059129.3:n.*271C>T
XM_011519498.1:c.*271C>T	XP_011517800.1:n.*271C>T
XM_011519499.1:c.*271C>T	XP_011517801.1:n.*271C>T
XM_011519500.1:c.*271C>T	XP_011517802.1:n.*271C>T
XM_011519501.1:c.*271C>T	XP_011517803.1:n.*271C>T
XM_011519504.1:c.*173C>T	XP_011517806.1:n.*173C>T
XM_011519505.1:c.*271C>T	XP_011517807.1:n.*271C>T
XM_011519507.1:c.*271C>T	XP_011517809.1:n.*271C>T
XM_011519512.1:c.*271C>T	XP_011517814.1:n.*271C>T
XM_011519513.1:c.*271C>T	XP_011517815.1:n.*271C>T
XR_930493.1:n.5219C>T
XM_011519498.2:c.*271C>T	XP_011517800.1:n.*271C>T
XM_011519500.2:c.*271C>T	XP_011517802.1:n.*271C>T
XM_011519513.2:c.*271C>T	XP_011517815.1:n.*271C>T
XR_001747111.1:n.4179C>T
NM_017433.5:c.*271C>T MANE Select	NP_059129.3:n.*271C>T