Canonical Allele Identifier: CA6778958

Gene: MMAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109565134G>A , CM000674.2:g.109565134G>A	GRCh38
NC_000012.11:g.110002939G>A , CM000674.1:g.110002939G>A	GRCh37
NC_000012.10:g.108487322G>A	NCBI36
NG_007096.1:g.13364C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_052845.4:c.333C>T MANE Select	NP_443077.1:p.Ala111=
ENST00000545712.7:c.333C>T MANE Select	ENSP00000445920.1:p.Ala111=
NM_052845.3:c.333C>T	NP_443077.1:p.Ala111=
NR_038118.1:n.406C>T
NR_038118.2:n.357C>T
ENST00000420167.6:c.*162C>T	ENSP00000416136.2:n.*162C>T
ENST00000503497.7:c.*43C>T	ENSP00000474881.1:n.*43C>T
ENST00000536760.1:n.336C>T
ENST00000537496.5:c.333C>T	ENSP00000444793.1:p.Ala111=
ENST00000540016.5:c.177C>T	ENSP00000474582.1:p.Ala59=
ENST00000541763.6:c.333C>T	ENSP00000474981.1:p.Ala111=
ENST00000542390.5:n.360C>T
ENST00000544051.5:c.*127C>T	ENSP00000438079.1:n.*127C>T
ENST00000545712.6:c.333C>T	ENSP00000445920.1:p.Ala111=
XM_011538266.1:c.91C>T	XP_011536568.1:p.Arg31Ter
XM_011538267.1:c.91C>T	XP_011536569.1:p.Arg31Ter
XM_011538267.3:c.91C>T	XP_011536569.1:p.Arg31Ter
XM_011538268.1:c.60C>T	XP_011536570.1:p.Ala20=
XM_011538268.2:c.60C>T	XP_011536570.1:p.Ala20=
XM_011538269.1:c.57C>T	XP_011536571.1:p.Ala19=
XM_011538269.2:c.57C>T	XP_011536571.1:p.Ala19=
XM_024448961.1:c.333C>T	XP_024304729.1:p.Ala111=