Canonical Allele Identifier: CA386639470

Gene: MMAB

Linked Data

• MyVariant Identifiers: chr12:g.110006591A>C (hg19) ; chr12:g.109568786A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109568786A>C , CM000674.2:g.109568786A>C	GRCh38
NC_000012.11:g.110006591A>C , CM000674.1:g.110006591A>C	GRCh37
NC_000012.10:g.108490974A>C	NCBI36
NG_007096.1:g.9712T>G
NG_007702.1:g.92A>C , LRG_156:g.92A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.274T>G MANE Select	ENSP00000445920.1:p.Leu92Val
ENST00000420167.6:c.*103T>G	ENSP00000416136.2:n.*103T>G
ENST00000503497.7:c.274T>G	ENSP00000474881.1:p.Leu92Val
ENST00000536760.1:n.277T>G
ENST00000537236.2:c.274T>G	ENSP00000483818.1:p.Leu92Val
ENST00000537496.5:c.274T>G	ENSP00000444793.1:p.Leu92Val
ENST00000540016.5:c.135-3610T>G	ENSP00000474582.1:n.135-3610T>G
ENST00000541763.6:c.274T>G	ENSP00000474981.1:p.Leu92Val
ENST00000542390.5:n.301T>G
ENST00000544051.5:c.*68T>G	ENSP00000438079.1:n.*68T>G
ENST00000545712.6:c.274T>G	ENSP00000445920.1:p.Leu92Val
NM_052845.3:c.274T>G	NP_443077.1:p.Leu92Val
NR_038118.1:n.347T>G
XM_024448961.1:c.274T>G	XP_024304729.1:p.Leu92Val
NM_052845.4:c.274T>G MANE Select	NP_443077.1:p.Leu92Val
NR_038118.2:n.298T>G