Canonical Allele Identifier: CA2062443999

Gene: MMAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557041G= , CM000674.2:g.109557041G=	GRCh38
NC_000012.11:g.109994846G= , CM000674.1:g.109994846G=	GRCh37
NC_000012.10:g.108479229G=	NCBI36
NG_007096.1:g.21457C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.740C= MANE Select	ENSP00000445920.1:p.Ser247=
ENST00000537496.5:c.*305C=	ENSP00000444793.1:n.*305C=
ENST00000540016.5:c.584C=	ENSP00000474582.1:p.Ser195=
ENST00000541763.6:c.965C=	ENSP00000474981.1:n.965C=
ENST00000544051.5:c.*621C=	ENSP00000438079.1:n.*621C=
ENST00000545712.6:c.740C=	ENSP00000445920.1:p.Ser247=
NM_052845.3:c.740C=	NP_443077.1:p.Ser247=
NR_038118.1:n.900C=
XM_011538266.1:c.*87C=	XP_011536568.1:n.*87C=
XM_011538267.1:c.*87C=	XP_011536569.1:n.*87C=
XM_011538268.1:c.467C=	XP_011536570.1:p.Ser156=
XM_011538269.1:c.464C=	XP_011536571.1:p.Ser155=
XM_011538267.3:c.*87C=	XP_011536569.1:n.*87C=
XM_011538268.2:c.467C=	XP_011536570.1:p.Ser156=
XM_011538269.2:c.464C=	XP_011536571.1:p.Ser155=
NM_052845.4:c.740C= MANE Select	NP_443077.1:p.Ser247=
NR_038118.2:n.851C=