Canonical Allele Identifier: CA243451091

Gene: MMAB

Linked Data

• dbSNP Id: rs530178672
• gnomAD v3: 12-109568673-C-T
• gnomAD v4: 12-109568673-C-T
• MyVariant Identifiers: chr12:g.110006478C>T (hg19) ; chr12:g.109568673C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109568673C>T , CM000674.2:g.109568673C>T	GRCh38
NC_000012.11:g.110006478C>T , CM000674.1:g.110006478C>T	GRCh37
NC_000012.10:g.108490861C>T	NCBI36
NG_007096.1:g.9825G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.290+97G>A MANE Select	ENSP00000445920.1:n.290+97G>A
ENST00000420167.6:c.*119+97G>A	ENSP00000416136.2:n.*119+97G>A
ENST00000503497.7:c.290+97G>A	ENSP00000474881.1:n.290+97G>A
ENST00000536760.1:n.293+97G>A
ENST00000537236.2:c.*93G>A	ENSP00000483818.1:n.*93G>A
ENST00000537496.5:c.290+97G>A	ENSP00000444793.1:n.290+97G>A
ENST00000540016.5:c.135-3497G>A	ENSP00000474582.1:n.135-3497G>A
ENST00000541763.6:c.290+97G>A	ENSP00000474981.1:n.290+97G>A
ENST00000542390.5:n.317+97G>A
ENST00000544051.5:c.*84+97G>A	ENSP00000438079.1:n.*84+97G>A
ENST00000545712.6:c.290+97G>A	ENSP00000445920.1:n.290+97G>A
NM_052845.3:c.290+97G>A	NP_443077.1:n.290+97G>A
NR_038118.1:n.363+97G>A
XM_011538266.1:c.-371G>A	XP_011536568.1:n.-371G>A
XM_011538267.1:c.-260G>A	XP_011536569.1:n.-260G>A
XM_011538269.1:c.-405G>A	XP_011536571.1:n.-405G>A
XM_011538267.3:c.-260G>A	XP_011536569.1:n.-260G>A
XM_011538269.2:c.-405G>A	XP_011536571.1:n.-405G>A
XM_024448961.1:c.290+97G>A	XP_024304729.1:n.290+97G>A
NM_052845.4:c.290+97G>A MANE Select	NP_443077.1:n.290+97G>A
NR_038118.2:n.314+97G>A