Canonical Allele Identifier: CA278556

Gene: MMAB

Linked Data

• ClinVar Variation Id: 218322
• ClinVar RCV Id: RCV000202574 ; RCV000780426
• dbSNP Id: rs756195708
• ExAC: 12:109998845 C / T
• gnomAD v2: 12-109998845-C-T
• gnomAD v3: 12-109561040-C-T
• gnomAD v4: 12-109561040-C-T
• COSMIC: COSM3782698
• MyVariant Identifiers: chr12:g.109998845C>T (hg19) ; chr12:g.109561040C>T (hg38)
• PubMed: PMID:20556797

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109561040C>T , CM000674.2:g.109561040C>T	GRCh38
NC_000012.11:g.109998845C>T , CM000674.1:g.109998845C>T	GRCh37
NC_000012.10:g.108483228C>T	NCBI36
NG_007096.1:g.17458G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.584G>A MANE Select	ENSP00000445920.1:p.Arg195His
ENST00000537496.5:c.*149G>A	ENSP00000444793.1:n.*149G>A
ENST00000540016.5:c.428G>A	ENSP00000474582.1:p.Arg143His
ENST00000541763.6:c.809G>A	ENSP00000474981.1:n.809G>A
ENST00000544051.5:c.*465G>A	ENSP00000438079.1:n.*465G>A
ENST00000545712.6:c.584G>A	ENSP00000445920.1:p.Arg195His
NM_052845.3:c.584G>A	NP_443077.1:p.Arg195His
NR_038118.1:n.744G>A
XM_011538266.1:c.429G>A	XP_011536568.1:p.Thr143=
XM_011538267.1:c.429G>A	XP_011536569.1:p.Thr143=
XM_011538268.1:c.311G>A	XP_011536570.1:p.Arg104His
XM_011538269.1:c.308G>A	XP_011536571.1:p.Arg103His
XM_011538267.3:c.429G>A	XP_011536569.1:p.Thr143=
XM_011538268.2:c.311G>A	XP_011536570.1:p.Arg104His
XM_011538269.2:c.308G>A	XP_011536571.1:p.Arg103His
XM_024448961.1:c.584G>A	XP_024304729.1:p.Arg195His
NM_052845.4:c.584G>A MANE Select	NP_443077.1:p.Arg195His
NR_038118.2:n.695G>A