Canonical Allele Identifier: CA386635688

Gene: MMAB

Linked Data

• MyVariant Identifiers: chr12:g.109994913T>C (hg19) ; chr12:g.109557108T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.673A>G MANE Select	ENSP00000445920.1:p.Arg225Gly
ENST00000537496.5:c.*238A>G	ENSP00000444793.1:n.*238A>G
ENST00000540016.5:c.517A>G	ENSP00000474582.1:p.Arg173Gly
ENST00000541763.6:c.898A>G	ENSP00000474981.1:n.898A>G
ENST00000544051.5:c.*554A>G	ENSP00000438079.1:n.*554A>G
ENST00000545712.6:c.673A>G	ENSP00000445920.1:p.Arg225Gly
NM_052845.3:c.673A>G	NP_443077.1:p.Arg225Gly
NR_038118.1:n.833A>G
XM_011538266.1:c.*20A>G	XP_011536568.1:n.*20A>G
XM_011538267.1:c.*20A>G	XP_011536569.1:n.*20A>G
XM_011538268.1:c.400A>G	XP_011536570.1:p.Arg134Gly
XM_011538269.1:c.397A>G	XP_011536571.1:p.Arg133Gly
XM_011538267.3:c.*20A>G	XP_011536569.1:n.*20A>G
XM_011538268.2:c.400A>G	XP_011536570.1:p.Arg134Gly
XM_011538269.2:c.397A>G	XP_011536571.1:p.Arg133Gly
NM_052845.4:c.673A>G MANE Select	NP_443077.1:p.Arg225Gly
NR_038118.2:n.784A>G