Canonical Allele Identifier: CA386635595

Gene: MMAB

Linked Data

• MyVariant Identifiers: chr12:g.109994894T>G (hg19) ; chr12:g.109557089T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557089T>G , CM000674.2:g.109557089T>G	GRCh38
NC_000012.11:g.109994894T>G , CM000674.1:g.109994894T>G	GRCh37
NC_000012.10:g.108479277T>G	NCBI36
NG_007096.1:g.21409A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.692A>C MANE Select	ENSP00000445920.1:p.Glu231Ala
ENST00000537496.5:c.*257A>C	ENSP00000444793.1:n.*257A>C
ENST00000540016.5:c.536A>C	ENSP00000474582.1:p.Glu179Ala
ENST00000541763.6:c.917A>C	ENSP00000474981.1:n.917A>C
ENST00000544051.5:c.*573A>C	ENSP00000438079.1:n.*573A>C
ENST00000545712.6:c.692A>C	ENSP00000445920.1:p.Glu231Ala
NM_052845.3:c.692A>C	NP_443077.1:p.Glu231Ala
NR_038118.1:n.852A>C
XM_011538266.1:c.*39A>C	XP_011536568.1:n.*39A>C
XM_011538267.1:c.*39A>C	XP_011536569.1:n.*39A>C
XM_011538268.1:c.419A>C	XP_011536570.1:p.Glu140Ala
XM_011538269.1:c.416A>C	XP_011536571.1:p.Glu139Ala
XM_011538267.3:c.*39A>C	XP_011536569.1:n.*39A>C
XM_011538268.2:c.419A>C	XP_011536570.1:p.Glu140Ala
XM_011538269.2:c.416A>C	XP_011536571.1:p.Glu139Ala
NM_052845.4:c.692A>C MANE Select	NP_443077.1:p.Glu231Ala
NR_038118.2:n.803A>C