Canonical Allele Identifier: CA386635549

Gene: MMAB

Linked Data

• gnomAD v4: 12-109557078-C-A
• MyVariant Identifiers: chr12:g.109994883C>A (hg19) ; chr12:g.109557078C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557078C>A , CM000674.2:g.109557078C>A	GRCh38
NC_000012.11:g.109994883C>A , CM000674.1:g.109994883C>A	GRCh37
NC_000012.10:g.108479266C>A	NCBI36
NG_007096.1:g.21420G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.703G>T MANE Select	ENSP00000445920.1:p.Glu235Ter
ENST00000537496.5:c.*268G>T	ENSP00000444793.1:n.*268G>T
ENST00000540016.5:c.547G>T	ENSP00000474582.1:p.Glu183Ter
ENST00000541763.6:c.928G>T	ENSP00000474981.1:n.928G>T
ENST00000544051.5:c.*584G>T	ENSP00000438079.1:n.*584G>T
ENST00000545712.6:c.703G>T	ENSP00000445920.1:p.Glu235Ter
NM_052845.3:c.703G>T	NP_443077.1:p.Glu235Ter
NR_038118.1:n.863G>T
XM_011538266.1:c.*50G>T	XP_011536568.1:n.*50G>T
XM_011538267.1:c.*50G>T	XP_011536569.1:n.*50G>T
XM_011538268.1:c.430G>T	XP_011536570.1:p.Glu144Ter
XM_011538269.1:c.427G>T	XP_011536571.1:p.Glu143Ter
XM_011538267.3:c.*50G>T	XP_011536569.1:n.*50G>T
XM_011538268.2:c.430G>T	XP_011536570.1:p.Glu144Ter
XM_011538269.2:c.427G>T	XP_011536571.1:p.Glu143Ter
NM_052845.4:c.703G>T MANE Select	NP_443077.1:p.Glu235Ter
NR_038118.2:n.814G>T