Canonical Allele Identifier: CA481711164

Gene: MMAB

Linked Data

• gnomAD v4: 12-109561066-C-T
• MyVariant Identifiers: chr12:g.109998871C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109561066C>T , CM000674.2:g.109561066C>T	GRCh38
NC_000012.11:g.109998871C>T , CM000674.1:g.109998871C>T	GRCh37
NC_000012.10:g.108483254C>T	NCBI36
NG_007096.1:g.17432G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000545712.7:c.558G>A MANE Select	ENSP00000445920.1:p.Arg186=
ENST00000537496.5:c.*123G>A	ENSP00000444793.1:n.*123G>A
ENST00000540016.5:c.402G>A	ENSP00000474582.1:p.Arg134=
ENST00000541763.6:c.783G>A	ENSP00000474981.1:n.783G>A
ENST00000544051.5:c.*439G>A	ENSP00000438079.1:n.*439G>A
ENST00000545712.6:c.558G>A	ENSP00000445920.1:p.Arg186=
NM_052845.3:c.558G>A	NP_443077.1:p.Arg186=
NR_038118.1:n.718G>A
XM_011538266.1:c.403G>A	XP_011536568.1:p.Gly135Ser
XM_011538267.1:c.403G>A	XP_011536569.1:p.Gly135Ser
XM_011538268.1:c.285G>A	XP_011536570.1:p.Arg95=
XM_011538269.1:c.282G>A	XP_011536571.1:p.Arg94=
XM_011538267.3:c.403G>A	XP_011536569.1:p.Gly135Ser
XM_011538268.2:c.285G>A	XP_011536570.1:p.Arg95=
XM_011538269.2:c.282G>A	XP_011536571.1:p.Arg94=
XM_024448961.1:c.558G>A	XP_024304729.1:p.Arg186=
NM_052845.4:c.558G>A MANE Select	NP_443077.1:p.Arg186=
NR_038118.2:n.669G>A