Canonical Allele Identifier: CA243451110

Gene: MMAB

Linked Data

• dbSNP Id: rs911759681
• gnomAD v2: 12-110006521-G-A
• gnomAD v3: 12-109568716-G-A
• gnomAD v4: 12-109568716-G-A
• MyVariant Identifiers: chr12:g.110006521G>A (hg19) ; chr12:g.109568716G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109568716G>A , CM000674.2:g.109568716G>A	GRCh38
NC_000012.11:g.110006521G>A , CM000674.1:g.110006521G>A	GRCh37
NC_000012.10:g.108490904G>A	NCBI36
NG_007096.1:g.9782C>T
NG_007702.1:g.22G>A , LRG_156:g.22G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.290+54C>T MANE Select	ENSP00000445920.1:n.290+54C>T
ENST00000420167.6:c.*119+54C>T	ENSP00000416136.2:n.*119+54C>T
ENST00000503497.7:c.290+54C>T	ENSP00000474881.1:n.290+54C>T
ENST00000536760.1:n.293+54C>T
ENST00000537236.2:c.*50C>T	ENSP00000483818.1:n.*50C>T
ENST00000537496.5:c.290+54C>T	ENSP00000444793.1:n.290+54C>T
ENST00000540016.5:c.135-3540C>T	ENSP00000474582.1:n.135-3540C>T
ENST00000541763.6:c.290+54C>T	ENSP00000474981.1:n.290+54C>T
ENST00000542390.5:n.317+54C>T
ENST00000544051.5:c.*84+54C>T	ENSP00000438079.1:n.*84+54C>T
ENST00000545712.6:c.290+54C>T	ENSP00000445920.1:n.290+54C>T
NM_052845.3:c.290+54C>T	NP_443077.1:n.290+54C>T
NR_038118.1:n.363+54C>T
XM_011538266.1:c.-414C>T	XP_011536568.1:n.-414C>T
XM_011538267.1:c.-303C>T	XP_011536569.1:n.-303C>T
XM_011538269.1:c.-448C>T	XP_011536571.1:n.-448C>T
XM_011538267.3:c.-303C>T	XP_011536569.1:n.-303C>T
XM_011538269.2:c.-448C>T	XP_011536571.1:n.-448C>T
XM_024448961.1:c.290+54C>T	XP_024304729.1:n.290+54C>T
NM_052845.4:c.290+54C>T MANE Select	NP_443077.1:n.290+54C>T
NR_038118.2:n.314+54C>T