Canonical Allele Identifier: CA386637012

Gene: MMAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109561085G>T , CM000674.2:g.109561085G>T	GRCh38
NC_000012.11:g.109998890G>T , CM000674.1:g.109998890G>T	GRCh37
NC_000012.10:g.108483273G>T	NCBI36
NG_007096.1:g.17413C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_052845.4:c.539C>A MANE Select	NP_443077.1:p.Ser180Ter
ENST00000545712.7:c.539C>A MANE Select	ENSP00000445920.1:p.Ser180Ter
NM_052845.3:c.539C>A	NP_443077.1:p.Ser180Ter
NR_038118.1:n.699C>A
NR_038118.2:n.650C>A
ENST00000537496.5:c.*104C>A	ENSP00000444793.1:n.*104C>A
ENST00000540016.5:c.383C>A	ENSP00000474582.1:p.Ser128Ter
ENST00000541763.6:c.764C>A	ENSP00000474981.1:n.764C>A
ENST00000544051.5:c.*420C>A	ENSP00000438079.1:n.*420C>A
ENST00000545712.6:c.539C>A	ENSP00000445920.1:p.Ser180Ter
XM_011538266.1:c.384C>A	XP_011536568.1:p.Leu128=
XM_011538267.1:c.384C>A	XP_011536569.1:p.Leu128=
XM_011538267.3:c.384C>A	XP_011536569.1:p.Leu128=
XM_011538268.1:c.266C>A	XP_011536570.1:p.Ser89Ter
XM_011538268.2:c.266C>A	XP_011536570.1:p.Ser89Ter
XM_011538269.1:c.263C>A	XP_011536571.1:p.Ser88Ter
XM_011538269.2:c.263C>A	XP_011536571.1:p.Ser88Ter
XM_024448961.1:c.539C>A	XP_024304729.1:p.Ser180Ter