Canonical Allele Identifier: CA6778998
Gene: MMAB HGNC NCBI

Linked Data

ClinVar Variation Id: 840395
ClinVar RCV Id: RCV001042369
dbSNP Id: rs143935056

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109568804C>T , CM000674.2:g.109568804C>T GRCh38
NC_000012.11:g.110006609C>T , CM000674.1:g.110006609C>T GRCh37
NC_000012.10:g.108490992C>T NCBI36
NG_007096.1:g.9694G>A
NG_007702.1:g.110C>T , LRG_156:g.110C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000545712.7:c.256G>A MANE Select ENSP00000445920.1:p.Val86Met
ENST00000420167.6:c.*85G>A ENSP00000416136.2:n.*85G>A
ENST00000503497.7:c.256G>A ENSP00000474881.1:p.Val86Met
ENST00000536760.1:n.259G>A
ENST00000537236.2:c.256G>A ENSP00000483818.1:p.Val86Met
ENST00000537496.5:c.256G>A ENSP00000444793.1:p.Val86Met
ENST00000540016.5:c.135-3628G>A ENSP00000474582.1:n.135-3628G>A
ENST00000541763.6:c.256G>A ENSP00000474981.1:p.Val86Met
ENST00000542390.5:n.283G>A
ENST00000544051.5:c.*50G>A ENSP00000438079.1:n.*50G>A
ENST00000545712.6:c.256G>A ENSP00000445920.1:p.Val86Met
NM_052845.3:c.256G>A NP_443077.1:p.Val86Met
NR_038118.1:n.329G>A
XM_024448961.1:c.256G>A XP_024304729.1:p.Val86Met
NM_052845.4:c.256G>A MANE Select NP_443077.1:p.Val86Met
NR_038118.2:n.280G>A