Canonical Allele Identifier: CA386639659

Gene: MMAB

Linked Data

• MyVariant Identifiers: chr12:g.110006630C>G (hg19) ; chr12:g.109568825C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109568825C>G , CM000674.2:g.109568825C>G	GRCh38
NC_000012.11:g.110006630C>G , CM000674.1:g.110006630C>G	GRCh37
NC_000012.10:g.108491013C>G	NCBI36
NG_007096.1:g.9673G>C
NG_007702.1:g.131C>G , LRG_156:g.131C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.235G>C MANE Select	ENSP00000445920.1:p.Asp79His
ENST00000420167.6:c.*64G>C	ENSP00000416136.2:n.*64G>C
ENST00000503497.7:c.235G>C	ENSP00000474881.1:p.Asp79His
ENST00000536760.1:n.238G>C
ENST00000537236.2:c.235G>C	ENSP00000483818.1:p.Asp79His
ENST00000537496.5:c.235G>C	ENSP00000444793.1:p.Asp79His
ENST00000540016.5:c.135-3649G>C	ENSP00000474582.1:n.135-3649G>C
ENST00000541763.6:c.235G>C	ENSP00000474981.1:p.Asp79His
ENST00000542390.5:n.262G>C
ENST00000544051.5:c.*29G>C	ENSP00000438079.1:n.*29G>C
ENST00000545712.6:c.235G>C	ENSP00000445920.1:p.Asp79His
NM_052845.3:c.235G>C	NP_443077.1:p.Asp79His
NR_038118.1:n.308G>C
XM_024448961.1:c.235G>C	XP_024304729.1:p.Asp79His
NM_052845.4:c.235G>C MANE Select	NP_443077.1:p.Asp79His
NR_038118.2:n.259G>C