Canonical Allele Identifier: CA2062455037

Gene: MMAB

Linked Data

• dbSNP Id: rs1052016367
• gnomAD v4: 12-109568712-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109568712T>C , CM000674.2:g.109568712T>C	GRCh38
NC_000012.11:g.110006517T>C , CM000674.1:g.110006517T>C	GRCh37
NC_000012.10:g.108490900T>C	NCBI36
NG_007096.1:g.9786A>G
NG_007702.1:g.18T>C , LRG_156:g.18T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.290+58A>G MANE Select	ENSP00000445920.1:n.290+58A>G
ENST00000420167.6:c.*119+58A>G	ENSP00000416136.2:n.*119+58A>G
ENST00000503497.7:c.290+58A>G	ENSP00000474881.1:n.290+58A>G
ENST00000536760.1:n.293+58A>G
ENST00000537236.2:c.*54A>G	ENSP00000483818.1:n.*54A>G
ENST00000537496.5:c.290+58A>G	ENSP00000444793.1:n.290+58A>G
ENST00000540016.5:c.135-3536A>G	ENSP00000474582.1:n.135-3536A>G
ENST00000541763.6:c.290+58A>G	ENSP00000474981.1:n.290+58A>G
ENST00000542390.5:n.317+58A>G
ENST00000544051.5:c.*84+58A>G	ENSP00000438079.1:n.*84+58A>G
ENST00000545712.6:c.290+58A>G	ENSP00000445920.1:n.290+58A>G
NM_052845.3:c.290+58A>G	NP_443077.1:n.290+58A>G
NR_038118.1:n.363+58A>G
XM_011538266.1:c.-410A>G	XP_011536568.1:n.-410A>G
XM_011538267.1:c.-299A>G	XP_011536569.1:n.-299A>G
XM_011538269.1:c.-444A>G	XP_011536571.1:n.-444A>G
XM_011538267.3:c.-299A>G	XP_011536569.1:n.-299A>G
XM_011538269.2:c.-444A>G	XP_011536571.1:n.-444A>G
XM_024448961.1:c.290+58A>G	XP_024304729.1:n.290+58A>G
NM_052845.4:c.290+58A>G MANE Select	NP_443077.1:n.290+58A>G
NR_038118.2:n.314+58A>G