Canonical Allele Identifier: CA2620813655

Gene: MMAB

Linked Data

• gnomAD v4: 12-109568710-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109568710C>A , CM000674.2:g.109568710C>A	GRCh38
NC_000012.11:g.110006515C>A , CM000674.1:g.110006515C>A	GRCh37
NC_000012.10:g.108490898C>A	NCBI36
NG_007096.1:g.9788G>T
NG_007702.1:g.16C>A , LRG_156:g.16C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.290+60G>T MANE Select	ENSP00000445920.1:n.290+60G>T
ENST00000420167.6:c.*119+60G>T	ENSP00000416136.2:n.*119+60G>T
ENST00000503497.7:c.290+60G>T	ENSP00000474881.1:n.290+60G>T
ENST00000536760.1:n.293+60G>T
ENST00000537236.2:c.*56G>T	ENSP00000483818.1:n.*56G>T
ENST00000537496.5:c.290+60G>T	ENSP00000444793.1:n.290+60G>T
ENST00000540016.5:c.135-3534G>T	ENSP00000474582.1:n.135-3534G>T
ENST00000541763.6:c.290+60G>T	ENSP00000474981.1:n.290+60G>T
ENST00000542390.5:n.317+60G>T
ENST00000544051.5:c.*84+60G>T	ENSP00000438079.1:n.*84+60G>T
ENST00000545712.6:c.290+60G>T	ENSP00000445920.1:n.290+60G>T
NM_052845.3:c.290+60G>T	NP_443077.1:n.290+60G>T
NR_038118.1:n.363+60G>T
XM_011538266.1:c.-408G>T	XP_011536568.1:n.-408G>T
XM_011538267.1:c.-297G>T	XP_011536569.1:n.-297G>T
XM_011538269.1:c.-442G>T	XP_011536571.1:n.-442G>T
XM_011538267.3:c.-297G>T	XP_011536569.1:n.-297G>T
XM_011538269.2:c.-442G>T	XP_011536571.1:n.-442G>T
XM_024448961.1:c.290+60G>T	XP_024304729.1:n.290+60G>T
NM_052845.4:c.290+60G>T MANE Select	NP_443077.1:n.290+60G>T
NR_038118.2:n.314+60G>T