Canonical Allele Identifier: CA2620813646

Gene: MMAB

Linked Data

• gnomAD v4: 12-109568689-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109568689C>A , CM000674.2:g.109568689C>A	GRCh38
NC_000012.11:g.110006494C>A , CM000674.1:g.110006494C>A	GRCh37
NC_000012.10:g.108490877C>A	NCBI36
NG_007096.1:g.9809G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.290+81G>T MANE Select	ENSP00000445920.1:n.290+81G>T
ENST00000420167.6:c.*119+81G>T	ENSP00000416136.2:n.*119+81G>T
ENST00000503497.7:c.290+81G>T	ENSP00000474881.1:n.290+81G>T
ENST00000536760.1:n.293+81G>T
ENST00000537236.2:c.*77G>T	ENSP00000483818.1:n.*77G>T
ENST00000537496.5:c.290+81G>T	ENSP00000444793.1:n.290+81G>T
ENST00000540016.5:c.135-3513G>T	ENSP00000474582.1:n.135-3513G>T
ENST00000541763.6:c.290+81G>T	ENSP00000474981.1:n.290+81G>T
ENST00000542390.5:n.317+81G>T
ENST00000544051.5:c.*84+81G>T	ENSP00000438079.1:n.*84+81G>T
ENST00000545712.6:c.290+81G>T	ENSP00000445920.1:n.290+81G>T
NM_052845.3:c.290+81G>T	NP_443077.1:n.290+81G>T
NR_038118.1:n.363+81G>T
XM_011538266.1:c.-387G>T	XP_011536568.1:n.-387G>T
XM_011538267.1:c.-276G>T	XP_011536569.1:n.-276G>T
XM_011538269.1:c.-421G>T	XP_011536571.1:n.-421G>T
XM_011538267.3:c.-276G>T	XP_011536569.1:n.-276G>T
XM_011538269.2:c.-421G>T	XP_011536571.1:n.-421G>T
XM_024448961.1:c.290+81G>T	XP_024304729.1:n.290+81G>T
NM_052845.4:c.290+81G>T MANE Select	NP_443077.1:n.290+81G>T
NR_038118.2:n.314+81G>T