Canonical Allele Identifier: CA1501192235
Community Standard Title: NM_172250.3(MMAA):c.64C= (p.Arg22=)
Gene: MMAA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.145639203C= , CM000666.2:g.145639203C= GRCh38
NC_000004.11:g.146560355C= , CM000666.1:g.146560355C= GRCh37
NC_000004.10:g.146779805C= NCBI36
NG_007536.1:g.24906C=
NG_007536.2:g.45162C=

Transcript Alleles

HGVS Amino-acid Change
NM_172250.3:c.64C= MANE Select NP_758454.1:p.Arg22=
ENST00000649156.2:c.64C= MANE Select ENSP00000497008.1:p.Arg22=
NM_001375644.1:c.64C= NP_001362573.1:p.Arg22=
NM_172250.2:c.64C= NP_758454.1:p.Arg22=
ENST00000281317.9:c.64C= ENSP00000281317.5:p.Arg22=
ENST00000506919.1:n.552C=
ENST00000511969.4:c.64C= ENSP00000427422.1:p.Arg22=
ENST00000541599.4:c.64C= ENSP00000442284.2:p.Arg22=
ENST00000541599.5:c.64C= ENSP00000442284.3:p.Arg22=
ENST00000647947.1:c.64C= ENSP00000496781.1:p.Arg22=
ENST00000648388.1:c.64C= ENSP00000497046.1:p.Arg22=
ENST00000649173.1:c.64C= ENSP00000497871.1:p.Arg22=
ENST00000649704.1:c.64C= ENSP00000497680.1:p.Arg22=
ENST00000679563.1:c.64C= ENSP00000506503.1:p.Arg22=
ENST00000679930.1:c.64C= ENSP00000506293.1:p.Arg22=
XM_011531684.1:c.64C= XP_011529986.1:p.Arg22=
XM_011531684.3:c.64C= XP_011529986.1:p.Arg22=
XM_011531685.1:c.64C= XP_011529987.1:p.Arg22=
XM_011531685.2:c.64C= XP_011529987.1:p.Arg22=
XM_011531686.2:c.-720C= XP_011529988.1:n.-720C=