Canonical Allele Identifier: CA2620813666

Gene: MMAB

Linked Data

• gnomAD v4: 12-109568743-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109568743C>G , CM000674.2:g.109568743C>G	GRCh38
NC_000012.11:g.110006548C>G , CM000674.1:g.110006548C>G	GRCh37
NC_000012.10:g.108490931C>G	NCBI36
NG_007096.1:g.9755G>C
NG_007702.1:g.49C>G , LRG_156:g.49C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.290+27G>C MANE Select	ENSP00000445920.1:n.290+27G>C
ENST00000420167.6:c.*119+27G>C	ENSP00000416136.2:n.*119+27G>C
ENST00000503497.7:c.290+27G>C	ENSP00000474881.1:n.290+27G>C
ENST00000536760.1:n.293+27G>C
ENST00000537236.2:c.*23G>C	ENSP00000483818.1:n.*23G>C
ENST00000537496.5:c.290+27G>C	ENSP00000444793.1:n.290+27G>C
ENST00000540016.5:c.135-3567G>C	ENSP00000474582.1:n.135-3567G>C
ENST00000541763.6:c.290+27G>C	ENSP00000474981.1:n.290+27G>C
ENST00000542390.5:n.317+27G>C
ENST00000544051.5:c.*84+27G>C	ENSP00000438079.1:n.*84+27G>C
ENST00000545712.6:c.290+27G>C	ENSP00000445920.1:n.290+27G>C
NM_052845.3:c.290+27G>C	NP_443077.1:n.290+27G>C
NR_038118.1:n.363+27G>C
XM_011538266.1:c.-441G>C	XP_011536568.1:n.-441G>C
XM_011538267.1:c.-330G>C	XP_011536569.1:n.-330G>C
XM_011538267.3:c.-330G>C	XP_011536569.1:n.-330G>C
XM_011538269.2:c.-475G>C	XP_011536571.1:n.-475G>C
XM_024448961.1:c.290+27G>C	XP_024304729.1:n.290+27G>C
NM_052845.4:c.290+27G>C MANE Select	NP_443077.1:n.290+27G>C
NR_038118.2:n.314+27G>C