Canonical Allele Identifier: CA6779010

Gene: MMAB

Linked Data

• dbSNP Id: rs767573071
• ExAC: 12:110006719 A / T
• gnomAD v2: 12-110006719-A-T
• gnomAD v4: 12-109568914-A-T
• MyVariant Identifiers: chr12:g.110006719A>T (hg19) ; chr12:g.109568914A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109568914A>T , CM000674.2:g.109568914A>T	GRCh38
NC_000012.11:g.110006719A>T , CM000674.1:g.110006719A>T	GRCh37
NC_000012.10:g.108491102A>T	NCBI36
NG_007096.1:g.9584T>A
NG_007702.1:g.220A>T , LRG_156:g.220A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.197-51T>A MANE Select	ENSP00000445920.1:n.197-51T>A
ENST00000420167.6:c.*26-51T>A	ENSP00000416136.2:n.*26-51T>A
ENST00000503497.7:c.197-51T>A	ENSP00000474881.1:n.197-51T>A
ENST00000536760.1:n.200-51T>A
ENST00000537236.2:c.197-51T>A	ENSP00000483818.1:n.197-51T>A
ENST00000537496.5:c.197-51T>A	ENSP00000444793.1:n.197-51T>A
ENST00000540016.5:c.135-3738T>A	ENSP00000474582.1:n.135-3738T>A
ENST00000541763.6:c.197-51T>A	ENSP00000474981.1:n.197-51T>A
ENST00000542390.5:n.224-51T>A
ENST00000544051.5:c.135-51T>A	ENSP00000438079.1:n.135-51T>A
ENST00000545712.6:c.197-51T>A	ENSP00000445920.1:n.197-51T>A
NM_052845.3:c.197-51T>A	NP_443077.1:n.197-51T>A
NR_038118.1:n.270-51T>A
XM_024448961.1:c.197-51T>A	XP_024304729.1:n.197-51T>A
NM_052845.4:c.197-51T>A MANE Select	NP_443077.1:n.197-51T>A
NR_038118.2:n.221-51T>A