Canonical Allele Identifier: CA481710089

Gene: MMAB

Linked Data

• MyVariant Identifiers: chr12:g.109994890C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557085C>G , CM000674.2:g.109557085C>G	GRCh38
NC_000012.11:g.109994890C>G , CM000674.1:g.109994890C>G	GRCh37
NC_000012.10:g.108479273C>G	NCBI36
NG_007096.1:g.21413G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.696G>C MANE Select	ENSP00000445920.1:p.Gly232=
ENST00000537496.5:c.*261G>C	ENSP00000444793.1:n.*261G>C
ENST00000540016.5:c.540G>C	ENSP00000474582.1:p.Gly180=
ENST00000541763.6:c.921G>C	ENSP00000474981.1:n.921G>C
ENST00000544051.5:c.*577G>C	ENSP00000438079.1:n.*577G>C
ENST00000545712.6:c.696G>C	ENSP00000445920.1:p.Gly232=
NM_052845.3:c.696G>C	NP_443077.1:p.Gly232=
NR_038118.1:n.856G>C
XM_011538266.1:c.*43G>C	XP_011536568.1:n.*43G>C
XM_011538267.1:c.*43G>C	XP_011536569.1:n.*43G>C
XM_011538268.1:c.423G>C	XP_011536570.1:p.Gly141=
XM_011538269.1:c.420G>C	XP_011536571.1:p.Gly140=
XM_011538267.3:c.*43G>C	XP_011536569.1:n.*43G>C
XM_011538268.2:c.423G>C	XP_011536570.1:p.Gly141=
XM_011538269.2:c.420G>C	XP_011536571.1:p.Gly140=
NM_052845.4:c.696G>C MANE Select	NP_443077.1:p.Gly232=
NR_038118.2:n.807G>C