Canonical Allele Identifier: CA481710110

Gene: MMAB

Linked Data

• MyVariant Identifiers: chr12:g.109994902G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557097G>T , CM000674.2:g.109557097G>T	GRCh38
NC_000012.11:g.109994902G>T , CM000674.1:g.109994902G>T	GRCh37
NC_000012.10:g.108479285G>T	NCBI36
NG_007096.1:g.21401C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.684C>A MANE Select	ENSP00000445920.1:p.Ala228=
ENST00000537496.5:c.*249C>A	ENSP00000444793.1:n.*249C>A
ENST00000540016.5:c.528C>A	ENSP00000474582.1:p.Ala176=
ENST00000541763.6:c.909C>A	ENSP00000474981.1:n.909C>A
ENST00000544051.5:c.*565C>A	ENSP00000438079.1:n.*565C>A
ENST00000545712.6:c.684C>A	ENSP00000445920.1:p.Ala228=
NM_052845.3:c.684C>A	NP_443077.1:p.Ala228=
NR_038118.1:n.844C>A
XM_011538266.1:c.*31C>A	XP_011536568.1:n.*31C>A
XM_011538267.1:c.*31C>A	XP_011536569.1:n.*31C>A
XM_011538268.1:c.411C>A	XP_011536570.1:p.Ala137=
XM_011538269.1:c.408C>A	XP_011536571.1:p.Ala136=
XM_011538267.3:c.*31C>A	XP_011536569.1:n.*31C>A
XM_011538268.2:c.411C>A	XP_011536570.1:p.Ala137=
XM_011538269.2:c.408C>A	XP_011536571.1:p.Ala136=
NM_052845.4:c.684C>A MANE Select	NP_443077.1:p.Ala228=
NR_038118.2:n.795C>A