Canonical Allele Identifier: CA386639737
Gene: MMAB HGNC NCBI

Linked Data

ClinVar Variation Id: 439902
ClinVar RCV Id: RCV001829450
dbSNP Id: rs1389815526

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109568838T>A , CM000674.2:g.109568838T>A GRCh38
NC_000012.11:g.110006643T>A , CM000674.1:g.110006643T>A GRCh37
NC_000012.10:g.108491026T>A NCBI36
NG_007096.1:g.9660A>T
NG_007702.1:g.144T>A , LRG_156:g.144T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000545712.7:c.222A>T MANE Select ENSP00000445920.1:p.Glu74Asp
ENST00000420167.6:c.*51A>T ENSP00000416136.2:n.*51A>T
ENST00000503497.7:c.222A>T ENSP00000474881.1:p.Glu74Asp
ENST00000536760.1:n.225A>T
ENST00000537236.2:c.222A>T ENSP00000483818.1:p.Glu74Asp
ENST00000537496.5:c.222A>T ENSP00000444793.1:p.Glu74Asp
ENST00000540016.5:c.135-3662A>T ENSP00000474582.1:n.135-3662A>T
ENST00000541763.6:c.222A>T ENSP00000474981.1:p.Glu74Asp
ENST00000542390.5:n.249A>T
ENST00000544051.5:c.*16A>T ENSP00000438079.1:n.*16A>T
ENST00000545712.6:c.222A>T ENSP00000445920.1:p.Glu74Asp
NM_052845.3:c.222A>T NP_443077.1:p.Glu74Asp
NR_038118.1:n.295A>T
XM_024448961.1:c.222A>T XP_024304729.1:p.Glu74Asp
NM_052845.4:c.222A>T MANE Select NP_443077.1:p.Glu74Asp
NR_038118.2:n.246A>T