Canonical Allele Identifier: CA2575285618
Gene: MMAB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109568950A>T , CM000674.2:g.109568950A>T GRCh38
NC_000012.11:g.110006755A>T , CM000674.1:g.110006755A>T GRCh37
NC_000012.10:g.108491138A>T NCBI36
NG_007096.1:g.9548T>A
NG_007702.1:g.256A>T , LRG_156:g.256A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000545712.7:c.197-87T>A MANE Select ENSP00000445920.1:n.197-87T>A
ENST00000420167.6:c.*26-87T>A ENSP00000416136.2:n.*26-87T>A
ENST00000503497.7:c.197-87T>A ENSP00000474881.1:n.197-87T>A
ENST00000536760.1:n.200-87T>A
ENST00000537236.2:c.197-87T>A ENSP00000483818.1:n.197-87T>A
ENST00000537496.5:c.197-87T>A ENSP00000444793.1:n.197-87T>A
ENST00000540016.5:c.135-3774T>A ENSP00000474582.1:n.135-3774T>A
ENST00000541763.6:c.197-87T>A ENSP00000474981.1:n.197-87T>A
ENST00000542390.5:n.224-87T>A
ENST00000544051.5:c.135-87T>A ENSP00000438079.1:n.135-87T>A
ENST00000545712.6:c.197-87T>A ENSP00000445920.1:n.197-87T>A
NM_052845.3:c.197-87T>A NP_443077.1:n.197-87T>A
NR_038118.1:n.270-87T>A
XM_024448961.1:c.197-87T>A XP_024304729.1:n.197-87T>A
NM_052845.4:c.197-87T>A MANE Select NP_443077.1:n.197-87T>A
NR_038118.2:n.221-87T>A