Canonical Allele Identifier: CA386635680

Gene: MMAB

Linked Data

• MyVariant Identifiers: chr12:g.109994912C>G (hg19) ; chr12:g.109557107C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557107C>G , CM000674.2:g.109557107C>G	GRCh38
NC_000012.11:g.109994912C>G , CM000674.1:g.109994912C>G	GRCh37
NC_000012.10:g.108479295C>G	NCBI36
NG_007096.1:g.21391G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.674G>C MANE Select	ENSP00000445920.1:p.Arg225Thr
ENST00000537496.5:c.*239G>C	ENSP00000444793.1:n.*239G>C
ENST00000540016.5:c.518G>C	ENSP00000474582.1:p.Arg173Thr
ENST00000541763.6:c.899G>C	ENSP00000474981.1:n.899G>C
ENST00000544051.5:c.*555G>C	ENSP00000438079.1:n.*555G>C
ENST00000545712.6:c.674G>C	ENSP00000445920.1:p.Arg225Thr
NM_052845.3:c.674G>C	NP_443077.1:p.Arg225Thr
NR_038118.1:n.834G>C
XM_011538266.1:c.*21G>C	XP_011536568.1:n.*21G>C
XM_011538267.1:c.*21G>C	XP_011536569.1:n.*21G>C
XM_011538268.1:c.401G>C	XP_011536570.1:p.Arg134Thr
XM_011538269.1:c.398G>C	XP_011536571.1:p.Arg133Thr
XM_011538267.3:c.*21G>C	XP_011536569.1:n.*21G>C
XM_011538268.2:c.401G>C	XP_011536570.1:p.Arg134Thr
XM_011538269.2:c.398G>C	XP_011536571.1:p.Arg133Thr
NM_052845.4:c.674G>C MANE Select	NP_443077.1:p.Arg225Thr
NR_038118.2:n.785G>C