Canonical Allele Identifier: CA386638601

Gene: MMAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109565133C>A , CM000674.2:g.109565133C>A	GRCh38
NC_000012.11:g.110002938C>A , CM000674.1:g.110002938C>A	GRCh37
NC_000012.10:g.108487321C>A	NCBI36
NG_007096.1:g.13365G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_052845.4:c.334G>T MANE Select	NP_443077.1:p.Glu112Ter
ENST00000545712.7:c.334G>T MANE Select	ENSP00000445920.1:p.Glu112Ter
NM_052845.3:c.334G>T	NP_443077.1:p.Glu112Ter
NR_038118.1:n.407G>T
NR_038118.2:n.358G>T
ENST00000420167.6:c.*163G>T	ENSP00000416136.2:n.*163G>T
ENST00000503497.7:c.*44G>T	ENSP00000474881.1:n.*44G>T
ENST00000536760.1:n.337G>T
ENST00000537496.5:c.334G>T	ENSP00000444793.1:p.Glu112Ter
ENST00000540016.5:c.178G>T	ENSP00000474582.1:p.Glu60Ter
ENST00000541763.6:c.334G>T	ENSP00000474981.1:p.Glu112Ter
ENST00000542390.5:n.361G>T
ENST00000544051.5:c.*128G>T	ENSP00000438079.1:n.*128G>T
ENST00000545712.6:c.334G>T	ENSP00000445920.1:p.Glu112Ter
XM_011538266.1:c.92G>T	XP_011536568.1:p.Arg31Leu
XM_011538267.1:c.92G>T	XP_011536569.1:p.Arg31Leu
XM_011538267.3:c.92G>T	XP_011536569.1:p.Arg31Leu
XM_011538268.1:c.61G>T	XP_011536570.1:p.Glu21Ter
XM_011538268.2:c.61G>T	XP_011536570.1:p.Glu21Ter
XM_011538269.1:c.58G>T	XP_011536571.1:p.Glu20Ter
XM_011538269.2:c.58G>T	XP_011536571.1:p.Glu20Ter
XM_024448961.1:c.334G>T	XP_024304729.1:p.Glu112Ter