Canonical Allele Identifier: CA386639750

Gene: MMAB

Linked Data

• ClinVar Variation Id: 1068489
• ClinVar RCV Id: RCV001380085
• dbSNP Id: rs2136208377
• gnomAD v4: 12-109568840-C-A
• MyVariant Identifiers: chr12:g.110006645C>A (hg19) ; chr12:g.109568840C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109568840C>A , CM000674.2:g.109568840C>A	GRCh38
NC_000012.11:g.110006645C>A , CM000674.1:g.110006645C>A	GRCh37
NC_000012.10:g.108491028C>A	NCBI36
NG_007096.1:g.9658G>T
NG_007702.1:g.146C>A , LRG_156:g.146C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.220G>T MANE Select	ENSP00000445920.1:p.Glu74Ter
ENST00000420167.6:c.*49G>T	ENSP00000416136.2:n.*49G>T
ENST00000503497.7:c.220G>T	ENSP00000474881.1:p.Glu74Ter
ENST00000536760.1:n.223G>T
ENST00000537236.2:c.220G>T	ENSP00000483818.1:p.Glu74Ter
ENST00000537496.5:c.220G>T	ENSP00000444793.1:p.Glu74Ter
ENST00000540016.5:c.135-3664G>T	ENSP00000474582.1:n.135-3664G>T
ENST00000541763.6:c.220G>T	ENSP00000474981.1:p.Glu74Ter
ENST00000542390.5:n.247G>T
ENST00000544051.5:c.*14G>T	ENSP00000438079.1:n.*14G>T
ENST00000545712.6:c.220G>T	ENSP00000445920.1:p.Glu74Ter
NM_052845.3:c.220G>T	NP_443077.1:p.Glu74Ter
NR_038118.1:n.293G>T
XM_024448961.1:c.220G>T	XP_024304729.1:p.Glu74Ter
NM_052845.4:c.220G>T MANE Select	NP_443077.1:p.Glu74Ter
NR_038118.2:n.244G>T