Canonical Allele Identifier: CA2062444012

Gene: MMAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557046G= , CM000674.2:g.109557046G=	GRCh38
NC_000012.11:g.109994851G= , CM000674.1:g.109994851G=	GRCh37
NC_000012.10:g.108479234G=	NCBI36
NG_007096.1:g.21452C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.735C= MANE Select	ENSP00000445920.1:p.Ala245=
ENST00000537496.5:c.*300C=	ENSP00000444793.1:n.*300C=
ENST00000540016.5:c.579C=	ENSP00000474582.1:p.Ala193=
ENST00000541763.6:c.960C=	ENSP00000474981.1:n.960C=
ENST00000544051.5:c.*616C=	ENSP00000438079.1:n.*616C=
ENST00000545712.6:c.735C=	ENSP00000445920.1:p.Ala245=
NM_052845.3:c.735C=	NP_443077.1:p.Ala245=
NR_038118.1:n.895C=
XM_011538266.1:c.*82C=	XP_011536568.1:n.*82C=
XM_011538267.1:c.*82C=	XP_011536569.1:n.*82C=
XM_011538268.1:c.462C=	XP_011536570.1:p.Ala154=
XM_011538269.1:c.459C=	XP_011536571.1:p.Ala153=
XM_011538267.3:c.*82C=	XP_011536569.1:n.*82C=
XM_011538268.2:c.462C=	XP_011536570.1:p.Ala154=
XM_011538269.2:c.459C=	XP_011536571.1:p.Ala153=
NM_052845.4:c.735C= MANE Select	NP_443077.1:p.Ala245=
NR_038118.2:n.846C=