Canonical Allele Identifier: CA386635599

Gene: MMAB

Linked Data

• gnomAD v4: 12-109557090-C-T
• MyVariant Identifiers: chr12:g.109994895C>T (hg19) ; chr12:g.109557090C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557090C>T , CM000674.2:g.109557090C>T	GRCh38
NC_000012.11:g.109994895C>T , CM000674.1:g.109994895C>T	GRCh37
NC_000012.10:g.108479278C>T	NCBI36
NG_007096.1:g.21408G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.691G>A MANE Select	ENSP00000445920.1:p.Glu231Lys
ENST00000537496.5:c.*256G>A	ENSP00000444793.1:n.*256G>A
ENST00000540016.5:c.535G>A	ENSP00000474582.1:p.Glu179Lys
ENST00000541763.6:c.916G>A	ENSP00000474981.1:n.916G>A
ENST00000544051.5:c.*572G>A	ENSP00000438079.1:n.*572G>A
ENST00000545712.6:c.691G>A	ENSP00000445920.1:p.Glu231Lys
NM_052845.3:c.691G>A	NP_443077.1:p.Glu231Lys
NR_038118.1:n.851G>A
XM_011538266.1:c.*38G>A	XP_011536568.1:n.*38G>A
XM_011538267.1:c.*38G>A	XP_011536569.1:n.*38G>A
XM_011538268.1:c.418G>A	XP_011536570.1:p.Glu140Lys
XM_011538269.1:c.415G>A	XP_011536571.1:p.Glu139Lys
XM_011538267.3:c.*38G>A	XP_011536569.1:n.*38G>A
XM_011538268.2:c.418G>A	XP_011536570.1:p.Glu140Lys
XM_011538269.2:c.415G>A	XP_011536571.1:p.Glu139Lys
NM_052845.4:c.691G>A MANE Select	NP_443077.1:p.Glu231Lys
NR_038118.2:n.802G>A