Canonical Allele Identifier: CA481709970

Gene: MMAB

Linked Data

• MyVariant Identifiers: chr12:g.109994842C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557037C>T , CM000674.2:g.109557037C>T	GRCh38
NC_000012.11:g.109994842C>T , CM000674.1:g.109994842C>T	GRCh37
NC_000012.10:g.108479225C>T	NCBI36
NG_007096.1:g.21461G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.744G>A MANE Select	ENSP00000445920.1:p.Glu248=
ENST00000537496.5:c.*309G>A	ENSP00000444793.1:n.*309G>A
ENST00000540016.5:c.588G>A	ENSP00000474582.1:p.Glu196=
ENST00000541763.6:c.969G>A	ENSP00000474981.1:n.969G>A
ENST00000544051.5:c.*625G>A	ENSP00000438079.1:n.*625G>A
ENST00000545712.6:c.744G>A	ENSP00000445920.1:p.Glu248=
NM_052845.3:c.744G>A	NP_443077.1:p.Glu248=
NR_038118.1:n.904G>A
XM_011538266.1:c.*91G>A	XP_011536568.1:n.*91G>A
XM_011538267.1:c.*91G>A	XP_011536569.1:n.*91G>A
XM_011538268.1:c.471G>A	XP_011536570.1:p.Glu157=
XM_011538269.1:c.468G>A	XP_011536571.1:p.Glu156=
XM_011538267.3:c.*91G>A	XP_011536569.1:n.*91G>A
XM_011538268.2:c.471G>A	XP_011536570.1:p.Glu157=
XM_011538269.2:c.468G>A	XP_011536571.1:p.Glu156=
NM_052845.4:c.744G>A MANE Select	NP_443077.1:p.Glu248=
NR_038118.2:n.855G>A