Canonical Allele Identifier: CA280404188
Community Standard Title: NM_002383.4(MAZ):c.1353C>T (p.Ala451=)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.29810150C>T , CM000678.2:g.29810150C>T GRCh38
NC_000016.9:g.29821471C>T , CM000678.1:g.29821471C>T GRCh37
NC_000016.8:g.29728972C>T NCBI36
NG_032039.1:g.3063C>T

Transcript Alleles

HGVS Amino-acid Change
NM_002383.4:c.1353C>T (MAZ) MANE Select NP_002374.2:p.Ala451=
ENST00000322945.11:c.1353C>T (MAZ) MANE Select ENSP00000313362.6:p.Ala451=
NM_001042539.2:c.*96C>T (MAZ) NP_001036004.1:n.*96C>T
NM_001042539.3:c.*96C>T (MAZ) NP_001036004.1:n.*96C>T
NM_001276275.1:c.1284C>T (MAZ) NP_001263204.1:p.Ala428=
NM_001276275.2:c.1284C>T (MAZ) NP_001263204.1:p.Ala428=
NM_001276276.1:c.438C>T (MAZ) NP_001263205.1:p.Ala146=
NM_001276276.2:c.438C>T (MAZ) NP_001263205.1:p.Ala146=
NM_002383.3:c.1353C>T (MAZ) NP_002374.2:p.Ala451=
NR_074080.1:n.667C>T (MAZ)
NR_074080.2:n.675C>T (MAZ)
ENST00000219782.10:c.*96C>T (MAZ) ENSP00000219782.6:n.*96C>T
ENST00000219782.11:c.*96C>T (MAZ) ENSP00000219782.6:n.*96C>T
ENST00000322945.10:c.1353C>T (MAZ) ENSP00000313362.6:p.Ala451=
ENST00000545521.5:c.1284C>T (MAZ) ENSP00000443956.1:p.Ala428=
ENST00000561855.1:c.*247C>T (MAZ) ENSP00000456179.1:n.*247C>T
ENST00000562337.5:c.438C>T (MAZ) ENSP00000455726.1:p.Ala146=
ENST00000563012.1:c.378C>T (MAZ) ENSP00000455913.1:p.Ala126=
ENST00000563402.1:c.322C>T (MAZ) ENSP00000457310.1:p.Pro108Ser
ENST00000565777.1:n.396C>T (MAZ)
ENST00000566906.6:c.316C>T (MAZ) ENSP00000461174.1:p.Pro106Ser
ENST00000568282.1:c.*92C>T (MAZ) ENSP00000458201.1:n.*92C>T
ENST00000568411.5:c.364C>T (MAZ)
ENST00000568544.5:c.156C>T (MAZ) ENSP00000455473.1:p.Ala52=
ENST00000616501.4:c.678C>T (MAZ) ENSP00000480440.1:p.Ala226=
XM_006721047.2:c.*96C>T (MAZ) XP_006721110.1:n.*96C>T
XM_006721047.4:c.*96C>T (MAZ) XP_006721110.1:n.*96C>T
XR_002957805.1:n.2042C>T (MAZ)
XR_002957806.1:n.1817C>T (MAZ)
XR_002957880.1:n.864G>A (MVP-DT)