Canonical Allele Identifier: CA481710126

Gene: MMAB

Linked Data

• MyVariant Identifiers: chr12:g.109994913T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557108T>G , CM000674.2:g.109557108T>G	GRCh38
NC_000012.11:g.109994913T>G , CM000674.1:g.109994913T>G	GRCh37
NC_000012.10:g.108479296T>G	NCBI36
NG_007096.1:g.21390A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.673A>C MANE Select	ENSP00000445920.1:p.Arg225=
ENST00000537496.5:c.*238A>C	ENSP00000444793.1:n.*238A>C
ENST00000540016.5:c.517A>C	ENSP00000474582.1:p.Arg173=
ENST00000541763.6:c.898A>C	ENSP00000474981.1:n.898A>C
ENST00000544051.5:c.*554A>C	ENSP00000438079.1:n.*554A>C
ENST00000545712.6:c.673A>C	ENSP00000445920.1:p.Arg225=
NM_052845.3:c.673A>C	NP_443077.1:p.Arg225=
NR_038118.1:n.833A>C
XM_011538266.1:c.*20A>C	XP_011536568.1:n.*20A>C
XM_011538267.1:c.*20A>C	XP_011536569.1:n.*20A>C
XM_011538268.1:c.400A>C	XP_011536570.1:p.Arg134=
XM_011538269.1:c.397A>C	XP_011536571.1:p.Arg133=
XM_011538267.3:c.*20A>C	XP_011536569.1:n.*20A>C
XM_011538268.2:c.400A>C	XP_011536570.1:p.Arg134=
XM_011538269.2:c.397A>C	XP_011536571.1:p.Arg133=
NM_052845.4:c.673A>C MANE Select	NP_443077.1:p.Arg225=
NR_038118.2:n.784A>C