Canonical Allele Identifier: CA2062444037

Gene: MMAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557054G= , CM000674.2:g.109557054G=	GRCh38
NC_000012.11:g.109994859G= , CM000674.1:g.109994859G=	GRCh37
NC_000012.10:g.108479242G=	NCBI36
NG_007096.1:g.21444C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.727C= MANE Select	ENSP00000445920.1:p.Pro243=
ENST00000537496.5:c.*292C=	ENSP00000444793.1:n.*292C=
ENST00000540016.5:c.571C=	ENSP00000474582.1:p.Pro191=
ENST00000541763.6:c.952C=	ENSP00000474981.1:n.952C=
ENST00000544051.5:c.*608C=	ENSP00000438079.1:n.*608C=
ENST00000545712.6:c.727C=	ENSP00000445920.1:p.Pro243=
NM_052845.3:c.727C=	NP_443077.1:p.Pro243=
NR_038118.1:n.887C=
XM_011538266.1:c.*74C=	XP_011536568.1:n.*74C=
XM_011538267.1:c.*74C=	XP_011536569.1:n.*74C=
XM_011538268.1:c.454C=	XP_011536570.1:p.Pro152=
XM_011538269.1:c.451C=	XP_011536571.1:p.Pro151=
XM_011538267.3:c.*74C=	XP_011536569.1:n.*74C=
XM_011538268.2:c.454C=	XP_011536570.1:p.Pro152=
XM_011538269.2:c.451C=	XP_011536571.1:p.Pro151=
NM_052845.4:c.727C= MANE Select	NP_443077.1:p.Pro243=
NR_038118.2:n.838C=