Canonical Allele Identifier: CA386640512

Gene: MMAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109571706G>A , CM000674.2:g.109571706G>A	GRCh38
NC_000012.11:g.110009511G>A , CM000674.1:g.110009511G>A	GRCh37
NC_000012.10:g.108493894G>A	NCBI36
NG_007096.1:g.6792C>T
NG_007702.1:g.3012G>A , LRG_156:g.3012G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_052845.4:c.139C>T MANE Select	NP_443077.1:p.Gln47Ter
ENST00000545712.7:c.139C>T MANE Select	ENSP00000445920.1:p.Gln47Ter
NM_052845.3:c.139C>T	NP_443077.1:p.Gln47Ter
NR_038118.1:n.212C>T
NR_038118.2:n.163C>T
ENST00000420167.6:c.139C>T	ENSP00000416136.2:p.Gln47Ter
ENST00000503497.7:c.139C>T	ENSP00000474881.1:p.Gln47Ter
ENST00000536760.1:n.142C>T
ENST00000537236.2:c.139C>T	ENSP00000483818.1:p.Gln47Ter
ENST00000537496.5:c.139C>T	ENSP00000444793.1:p.Gln47Ter
ENST00000540016.5:c.134+1641C>T	ENSP00000474582.1:n.134+1641C>T
ENST00000541763.6:c.139C>T	ENSP00000474981.1:p.Gln47Ter
ENST00000542390.5:n.166C>T
ENST00000544051.5:c.134+1641C>T	ENSP00000438079.1:n.134+1641C>T
ENST00000545712.6:c.139C>T	ENSP00000445920.1:p.Gln47Ter
XM_024448961.1:c.139C>T	XP_024304729.1:p.Gln47Ter