Canonical Allele Identifier: CA481711620

Gene: MMAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109561488G>A , CM000674.2:g.109561488G>A	GRCh38
NC_000012.11:g.109999293G>A , CM000674.1:g.109999293G>A	GRCh37
NC_000012.10:g.108483676G>A	NCBI36
NG_007096.1:g.17010C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_052845.4:c.451C>T MANE Select	NP_443077.1:p.Leu151=
ENST00000545712.7:c.451C>T MANE Select	ENSP00000445920.1:p.Leu151=
NM_052845.3:c.451C>T	NP_443077.1:p.Leu151=
NR_038118.1:n.524C>T
NR_038118.2:n.475C>T
ENST00000537496.5:c.451C>T	ENSP00000444793.1:p.Leu151=
ENST00000540016.5:c.295C>T	ENSP00000474582.1:p.Leu99=
ENST00000541763.6:c.451C>T	ENSP00000474981.1:p.Leu151=
ENST00000544051.5:c.*245C>T	ENSP00000438079.1:n.*245C>T
ENST00000545712.6:c.451C>T	ENSP00000445920.1:p.Leu151=
XM_011538266.1:c.209C>T	XP_011536568.1:p.Pro70Leu
XM_011538267.1:c.209C>T	XP_011536569.1:p.Pro70Leu
XM_011538267.3:c.209C>T	XP_011536569.1:p.Pro70Leu
XM_011538268.1:c.178C>T	XP_011536570.1:p.Leu60=
XM_011538268.2:c.178C>T	XP_011536570.1:p.Leu60=
XM_011538269.1:c.175C>T	XP_011536571.1:p.Leu59=
XM_011538269.2:c.175C>T	XP_011536571.1:p.Leu59=
XM_024448961.1:c.451C>T	XP_024304729.1:p.Leu151=