Canonical Allele Identifier: CA182682

Gene: MYO1A TAC3

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57028861T>G , CM000674.2:g.57028861T>G	GRCh38
NC_000012.11:g.57422645T>G , CM000674.1:g.57422645T>G	GRCh37
NC_000012.10:g.55708912T>G	NCBI36
NG_012104.1:g.26249A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005379.4:c.3026A>C (MYO1A) MANE Select	NP_005370.1:p.Glu1009Ala
ENST00000300119.8:c.3026A>C (MYO1A) MANE Select	ENSP00000300119.3:p.Glu1009Ala
NM_001256041.1:c.3026A>C (MYO1A)	NP_001242970.1:p.Glu1009Ala
NM_001256041.2:c.3026A>C (MYO1A)	NP_001242970.1:p.Glu1009Ala
NM_005379.3:c.3026A>C (MYO1A)	NP_005370.1:p.Glu1009Ala
ENST00000300119.7:c.3026A>C (MYO1A)	ENSP00000300119.3:p.Glu1009Ala
ENST00000415231.1:c.-199A>C (TAC3)	ENSP00000402995.1:n.-199A>C
ENST00000442789.6:c.3026A>C (MYO1A)	ENSP00000393392.2:p.Glu1009Ala
ENST00000554234.5:c.*471A>C (MYO1A)	ENSP00000451033.1:n.*471A>C