Canonical Allele Identifier: CA2062444094

Gene: MMAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557081G= , CM000674.2:g.109557081G=	GRCh38
NC_000012.11:g.109994886G= , CM000674.1:g.109994886G=	GRCh37
NC_000012.10:g.108479269G=	NCBI36
NG_007096.1:g.21417C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.700C= MANE Select	ENSP00000445920.1:p.Gln234=
ENST00000537496.5:c.*265C=	ENSP00000444793.1:n.*265C=
ENST00000540016.5:c.544C=	ENSP00000474582.1:p.Gln182=
ENST00000541763.6:c.925C=	ENSP00000474981.1:n.925C=
ENST00000544051.5:c.*581C=	ENSP00000438079.1:n.*581C=
ENST00000545712.6:c.700C=	ENSP00000445920.1:p.Gln234=
NM_052845.3:c.700C=	NP_443077.1:p.Gln234=
NR_038118.1:n.860C=
XM_011538266.1:c.*47C=	XP_011536568.1:n.*47C=
XM_011538267.1:c.*47C=	XP_011536569.1:n.*47C=
XM_011538268.1:c.427C=	XP_011536570.1:p.Gln143=
XM_011538269.1:c.424C=	XP_011536571.1:p.Gln142=
XM_011538267.3:c.*47C=	XP_011536569.1:n.*47C=
XM_011538268.2:c.427C=	XP_011536570.1:p.Gln143=
XM_011538269.2:c.424C=	XP_011536571.1:p.Gln142=
NM_052845.4:c.700C= MANE Select	NP_443077.1:p.Gln234=
NR_038118.2:n.811C=