Canonical Allele Identifier: CA2062444161

Gene: MMAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557121G= , CM000674.2:g.109557121G=	GRCh38
NC_000012.11:g.109994926G= , CM000674.1:g.109994926G=	GRCh37
NC_000012.10:g.108479309G=	NCBI36
NG_007096.1:g.21377C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.660C= MANE Select	ENSP00000445920.1:p.Leu220=
ENST00000537496.5:c.*225C=	ENSP00000444793.1:n.*225C=
ENST00000540016.5:c.504C=	ENSP00000474582.1:p.Leu168=
ENST00000541763.6:c.885C=	ENSP00000474981.1:n.885C=
ENST00000544051.5:c.*541C=	ENSP00000438079.1:n.*541C=
ENST00000545712.6:c.660C=	ENSP00000445920.1:p.Leu220=
NM_052845.3:c.660C=	NP_443077.1:p.Leu220=
NR_038118.1:n.820C=
XM_011538266.1:c.*7C=	XP_011536568.1:n.*7C=
XM_011538267.1:c.*7C=	XP_011536569.1:n.*7C=
XM_011538268.1:c.387C=	XP_011536570.1:p.Leu129=
XM_011538269.1:c.384C=	XP_011536571.1:p.Leu128=
XM_011538267.3:c.*7C=	XP_011536569.1:n.*7C=
XM_011538268.2:c.387C=	XP_011536570.1:p.Leu129=
XM_011538269.2:c.384C=	XP_011536571.1:p.Leu128=
NM_052845.4:c.660C= MANE Select	NP_443077.1:p.Leu220=
NR_038118.2:n.771C=