Canonical Allele Identifier: CA481710082

Gene: MMAB

Linked Data

• ClinVar Variation Id: 2095763
• ClinVar RCV Id: RCV003028060
• gnomAD v4: 12-109557079-T-C
• MyVariant Identifiers: chr12:g.109994884T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557079T>C , CM000674.2:g.109557079T>C	GRCh38
NC_000012.11:g.109994884T>C , CM000674.1:g.109994884T>C	GRCh37
NC_000012.10:g.108479267T>C	NCBI36
NG_007096.1:g.21419A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.702A>G MANE Select	ENSP00000445920.1:p.Gln234=
ENST00000537496.5:c.*267A>G	ENSP00000444793.1:n.*267A>G
ENST00000540016.5:c.546A>G	ENSP00000474582.1:p.Gln182=
ENST00000541763.6:c.927A>G	ENSP00000474981.1:n.927A>G
ENST00000544051.5:c.*583A>G	ENSP00000438079.1:n.*583A>G
ENST00000545712.6:c.702A>G	ENSP00000445920.1:p.Gln234=
NM_052845.3:c.702A>G	NP_443077.1:p.Gln234=
NR_038118.1:n.862A>G
XM_011538266.1:c.*49A>G	XP_011536568.1:n.*49A>G
XM_011538267.1:c.*49A>G	XP_011536569.1:n.*49A>G
XM_011538268.1:c.429A>G	XP_011536570.1:p.Gln143=
XM_011538269.1:c.426A>G	XP_011536571.1:p.Gln142=
XM_011538267.3:c.*49A>G	XP_011536569.1:n.*49A>G
XM_011538268.2:c.429A>G	XP_011536570.1:p.Gln143=
XM_011538269.2:c.426A>G	XP_011536571.1:p.Gln142=
NM_052845.4:c.702A>G MANE Select	NP_443077.1:p.Gln234=
NR_038118.2:n.813A>G