Canonical Allele Identifier: CA114766928
Community Standard Title: NM_012334.3(MYO10):c.279+5480G>A
Gene: MYO10 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.16812529C>T , CM000667.2:g.16812529C>T GRCh38
NC_000005.9:g.16812638C>T , CM000667.1:g.16812638C>T GRCh37
NC_000005.8:g.16865638C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_012334.3:c.279+5480G>A MANE Select NP_036466.2:n.279+5480G>A
ENST00000513610.6:c.279+5480G>A MANE Select ENSP00000421280.1:n.279+5480G>A
NM_012334.2:c.279+5480G>A NP_036466.2:n.279+5480G>A
ENST00000274203.13:c.279+5480G>A ENSP00000274203.10:n.279+5480G>A
ENST00000502436.5:c.180+5480G>A ENSP00000426783.2:n.180+5480G>A
ENST00000513610.5:c.279+5480G>A ENSP00000421280.1:n.279+5480G>A
ENST00000513882.5:c.312+5480G>A ENSP00000421309.1:n.312+5480G>A
XM_006714475.1:c.279+5480G>A XP_006714538.1:n.279+5480G>A
XM_006714475.3:c.279+5480G>A XP_006714538.1:n.279+5480G>A