Canonical Allele Identifier: CA2620810069

Gene: MMAB

Linked Data

• gnomAD v4: 12-109557016-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557016C>T , CM000674.2:g.109557016C>T	GRCh38
NC_000012.11:g.109994821C>T , CM000674.1:g.109994821C>T	GRCh37
NC_000012.10:g.108479204C>T	NCBI36
NG_007096.1:g.21482G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.*12G>A MANE Select	ENSP00000445920.1:n.*12G>A
ENST00000537496.5:c.*330G>A	ENSP00000444793.1:n.*330G>A
ENST00000540016.5:c.*12G>A	ENSP00000474582.1:n.*12G>A
ENST00000541763.6:c.990G>A	ENSP00000474981.1:n.990G>A
ENST00000544051.5:c.*646G>A	ENSP00000438079.1:n.*646G>A
ENST00000545712.6:c.*12G>A	ENSP00000445920.1:n.*12G>A
NM_052845.3:c.*12G>A	NP_443077.1:n.*12G>A
NR_038118.1:n.925G>A
XM_011538266.1:c.*112G>A	XP_011536568.1:n.*112G>A
XM_011538267.1:c.*112G>A	XP_011536569.1:n.*112G>A
XM_011538268.1:c.*12G>A	XP_011536570.1:n.*12G>A
XM_011538269.1:c.*12G>A	XP_011536571.1:n.*12G>A
XM_011538267.3:c.*112G>A	XP_011536569.1:n.*112G>A
XM_011538268.2:c.*12G>A	XP_011536570.1:n.*12G>A
XM_011538269.2:c.*12G>A	XP_011536571.1:n.*12G>A
NM_052845.4:c.*12G>A MANE Select	NP_443077.1:n.*12G>A
NR_038118.2:n.876G>A