Canonical Allele Identifier: CA2739270313
Gene: MMAA HGNC NCBI

Linked Data

ClinVar Variation Id: 2828093
ClinVar RCV Id: RCV003608039
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.145639525dup , CM000666.2:g.145639525dup GRCh38
NC_000004.11:g.146560677dup , CM000666.1:g.146560677dup GRCh37
NC_000004.10:g.146780127dup NCBI36
NG_007536.1:g.25228dup
NG_007536.2:g.45484dup

Transcript Alleles

HGVS Amino-acid change
ENST00000541599.5:c.386dup ENSP00000442284.3:p.Tyr129Ter
ENST00000647947.1:c.386dup ENSP00000496781.1:p.Tyr129Ter
ENST00000648388.1:c.386dup ENSP00000497046.1:p.Tyr129Ter
ENST00000649156.2:c.386dup MANE Select ENSP00000497008.1:p.Tyr129Ter
ENST00000649173.1:c.386dup ENSP00000497871.1:p.Tyr129Ter
ENST00000649704.1:c.386dup ENSP00000497680.1:p.Tyr129Ter
ENST00000679563.1:c.386dup ENSP00000506503.1:p.Tyr129Ter
ENST00000679930.1:c.386dup ENSP00000506293.1:p.Tyr129Ter
ENST00000281317.9:c.386dup ENSP00000281317.5:p.Tyr129Ter
ENST00000506919.1:n.874dup
ENST00000511969.4:c.386dup ENSP00000427422.1:p.Tyr129Ter
ENST00000541599.4:c.386dup ENSP00000442284.2:p.Tyr129Ter
NM_172250.2:c.386dup NP_758454.1:p.Tyr129Ter
XM_011531684.1:c.386dup XP_011529986.1:p.Tyr129Ter
XM_011531685.1:c.386dup XP_011529987.1:p.Tyr129Ter
NM_172250.3:c.386dup MANE Select NP_758454.1:p.Tyr129Ter
XM_011531684.3:c.386dup XP_011529986.1:p.Tyr129Ter
XM_011531685.2:c.386dup XP_011529987.1:p.Tyr129Ter
XM_011531686.2:c.-398dup XP_011529988.1:n.-398dup
NM_001375644.1:c.386dup NP_001362573.1:p.Tyr129Ter
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