Canonical Allele Identifier: CA481710179

Gene: MMAB

Linked Data

• MyVariant Identifiers: chr12:g.109994941T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557136T>C , CM000674.2:g.109557136T>C	GRCh38
NC_000012.11:g.109994941T>C , CM000674.1:g.109994941T>C	GRCh37
NC_000012.10:g.108479324T>C	NCBI36
NG_007096.1:g.21362A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.645A>G MANE Select	ENSP00000445920.1:p.Arg215=
ENST00000537496.5:c.*210A>G	ENSP00000444793.1:n.*210A>G
ENST00000540016.5:c.489A>G	ENSP00000474582.1:p.Arg163=
ENST00000541763.6:c.870A>G	ENSP00000474981.1:n.870A>G
ENST00000544051.5:c.*526A>G	ENSP00000438079.1:n.*526A>G
ENST00000545712.6:c.645A>G	ENSP00000445920.1:p.Arg215=
NM_052845.3:c.645A>G	NP_443077.1:p.Arg215=
NR_038118.1:n.805A>G
XM_011538266.1:c.490A>G	XP_011536568.1:p.Thr164Ala
XM_011538267.1:c.490A>G	XP_011536569.1:p.Thr164Ala
XM_011538268.1:c.372A>G	XP_011536570.1:p.Arg124=
XM_011538269.1:c.369A>G	XP_011536571.1:p.Arg123=
XM_011538267.3:c.490A>G	XP_011536569.1:p.Thr164Ala
XM_011538268.2:c.372A>G	XP_011536570.1:p.Arg124=
XM_011538269.2:c.369A>G	XP_011536571.1:p.Arg123=
NM_052845.4:c.645A>G MANE Select	NP_443077.1:p.Arg215=
NR_038118.2:n.756A>G