Canonical Allele Identifier: CA278561
Gene: MMAB HGNC NCBI

Linked Data

ClinVar Variation Id: 218326
ClinVar RCV Id: RCV000202589
dbSNP Id: rs864309511
MyVariant Identifiers: chr12:g.110006575C>T (hg19) chr12:g.109568770C>T (hg38)
PubMed: PMID:20556797
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109568770C>T , CM000674.2:g.109568770C>T GRCh38
NC_000012.11:g.110006575C>T , CM000674.1:g.110006575C>T GRCh37
NC_000012.10:g.108490958C>T NCBI36
NG_007096.1:g.9728G>A
NG_007702.1:g.76C>T , LRG_156:g.76C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000545712.7:c.290G>A MANE Select ENSP00000445920.1:p.Gly97Glu
ENST00000420167.6:c.*119G>A ENSP00000416136.2:n.*119G>A
ENST00000503497.7:c.290G>A ENSP00000474881.1:p.Gly97Glu
ENST00000536760.1:n.293G>A
ENST00000537236.2:c.290G>A ENSP00000483818.1:p.Gly97Glu
ENST00000537496.5:c.290G>A ENSP00000444793.1:p.Gly97Glu
ENST00000540016.5:c.135-3594G>A ENSP00000474582.1:n.135-3594G>A
ENST00000541763.6:c.290G>A ENSP00000474981.1:p.Gly97Glu
ENST00000542390.5:n.317G>A
ENST00000544051.5:c.*84G>A ENSP00000438079.1:n.*84G>A
ENST00000545712.6:c.290G>A ENSP00000445920.1:p.Gly97Glu
NM_052845.3:c.290G>A NP_443077.1:p.Gly97Glu
NR_038118.1:n.363G>A
XM_024448961.1:c.290G>A XP_024304729.1:p.Gly97Glu
NM_052845.4:c.290G>A MANE Select NP_443077.1:p.Gly97Glu
NR_038118.2:n.314G>A
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