Canonical Allele Identifier: CA386637472

Gene: MMAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109561485C>A , CM000674.2:g.109561485C>A	GRCh38
NC_000012.11:g.109999290C>A , CM000674.1:g.109999290C>A	GRCh37
NC_000012.10:g.108483673C>A	NCBI36
NG_007096.1:g.17013G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_052845.4:c.454G>T MANE Select	NP_443077.1:p.Glu152Ter
ENST00000545712.7:c.454G>T MANE Select	ENSP00000445920.1:p.Glu152Ter
NM_052845.3:c.454G>T	NP_443077.1:p.Glu152Ter
NR_038118.1:n.527G>T
NR_038118.2:n.478G>T
ENST00000537496.5:c.454G>T	ENSP00000444793.1:p.Glu152Ter
ENST00000540016.5:c.298G>T	ENSP00000474582.1:p.Glu100Ter
ENST00000541763.6:c.454G>T	ENSP00000474981.1:p.Glu152Ter
ENST00000544051.5:c.*248G>T	ENSP00000438079.1:n.*248G>T
ENST00000545712.6:c.454G>T	ENSP00000445920.1:p.Glu152Ter
XM_011538266.1:c.212G>T	XP_011536568.1:p.Gly71Val
XM_011538267.1:c.212G>T	XP_011536569.1:p.Gly71Val
XM_011538267.3:c.212G>T	XP_011536569.1:p.Gly71Val
XM_011538268.1:c.181G>T	XP_011536570.1:p.Glu61Ter
XM_011538268.2:c.181G>T	XP_011536570.1:p.Glu61Ter
XM_011538269.1:c.178G>T	XP_011536571.1:p.Glu60Ter
XM_011538269.2:c.178G>T	XP_011536571.1:p.Glu60Ter
XM_024448961.1:c.454G>T	XP_024304729.1:p.Glu152Ter