Canonical Allele Identifier: CA1501193246
Gene: MMAA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.145639678C= , CM000666.2:g.145639678C= GRCh38
NC_000004.11:g.146560830C= , CM000666.1:g.146560830C= GRCh37
NC_000004.10:g.146780280C= NCBI36
NG_007536.1:g.25381C=
NG_007536.2:g.45637C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000541599.5:c.439+100C= ENSP00000442284.3:n.439+100C=
ENST00000647947.1:c.*35C= ENSP00000496781.1:n.*35C=
ENST00000648388.1:c.439+100C= ENSP00000497046.1:n.439+100C=
ENST00000649156.2:c.439+100C= MANE Select ENSP00000497008.1:n.439+100C=
ENST00000649173.1:c.439+100C= ENSP00000497871.1:n.439+100C=
ENST00000649704.1:c.439+100C= ENSP00000497680.1:n.439+100C=
ENST00000679563.1:c.439+100C= ENSP00000506503.1:n.439+100C=
ENST00000679930.1:c.435+104C= ENSP00000506293.1:n.435+104C=
ENST00000281317.9:c.439+100C= ENSP00000281317.5:n.439+100C=
ENST00000506919.1:n.927+100C=
ENST00000511969.4:c.439+100C= ENSP00000427422.1:n.439+100C=
ENST00000541599.4:c.439+100C= ENSP00000442284.2:n.439+100C=
NM_172250.2:c.439+100C= NP_758454.1:n.439+100C=
XM_011531684.1:c.439+100C= XP_011529986.1:n.439+100C=
XM_011531685.1:c.439+100C= XP_011529987.1:n.439+100C=
XM_011531686.1:c.-245C= XP_011529988.1:n.-245C=
NM_172250.3:c.439+100C= MANE Select NP_758454.1:n.439+100C=
XM_011531684.3:c.439+100C= XP_011529986.1:n.439+100C=
XM_011531685.2:c.439+100C= XP_011529987.1:n.439+100C=
XM_011531686.2:c.-245C= XP_011529988.1:n.-245C=
NM_001375644.1:c.439+100C= NP_001362573.1:n.439+100C=