Canonical Allele Identifier: CA1501207254
Gene: MMAA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.145655179G= , CM000666.2:g.145655179G= GRCh38
NC_000004.11:g.146576331G= , CM000666.1:g.146576331G= GRCh37
NC_000004.10:g.146795781G= NCBI36
NG_007536.1:g.40882G=
NG_007536.2:g.61138G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000541599.5:c.1002G= ENSP00000442284.3:p.Gly334=
ENST00000647947.1:c.*786G= ENSP00000496781.1:n.*786G=
ENST00000648388.1:c.1002G= ENSP00000497046.1:p.Gly334=
ENST00000649156.2:c.1002G= MANE Select ENSP00000497008.1:p.Gly334=
ENST00000649173.1:c.936G= ENSP00000497871.1:p.Gly312=
ENST00000649704.1:c.1002G= ENSP00000497680.1:p.Gly334=
ENST00000679563.1:c.1002G= ENSP00000506503.1:p.Gly334=
ENST00000679930.1:c.*521G= ENSP00000506293.1:n.*521G=
ENST00000281317.9:c.1002G= ENSP00000281317.5:p.Gly334=
ENST00000503730.1:n.412G=
ENST00000511969.4:c.*133G= ENSP00000427422.1:n.*133G=
ENST00000541599.4:c.1002G= ENSP00000442284.2:p.Gly334=
NM_172250.2:c.1002G= NP_758454.1:p.Gly334=
XM_011531684.1:c.1002G= XP_011529986.1:p.Gly334=
XM_011531685.1:c.1002G= XP_011529987.1:p.Gly334=
XM_011531686.1:c.507G= XP_011529988.1:p.Gly169=
NM_172250.3:c.1002G= MANE Select NP_758454.1:p.Gly334=
XM_011531684.3:c.1002G= XP_011529986.1:p.Gly334=
XM_011531685.2:c.1002G= XP_011529987.1:p.Gly334=
XM_011531686.2:c.507G= XP_011529988.1:p.Gly169=
NM_001375644.1:c.1002G= NP_001362573.1:p.Gly334=