Canonical Allele Identifier: CA2575285368

Gene: MMAB

Linked Data

• gnomAD v4: 12-109556980-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109556980A>T , CM000674.2:g.109556980A>T	GRCh38
NC_000012.11:g.109994785A>T , CM000674.1:g.109994785A>T	GRCh37
NC_000012.10:g.108479168A>T	NCBI36
NG_007096.1:g.21518T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.*48T>A MANE Select	ENSP00000445920.1:n.*48T>A
ENST00000537496.5:c.*366T>A	ENSP00000444793.1:n.*366T>A
ENST00000540016.5:c.*48T>A	ENSP00000474582.1:n.*48T>A
ENST00000541763.6:c.1026T>A	ENSP00000474981.1:n.1026T>A
ENST00000544051.5:c.*682T>A	ENSP00000438079.1:n.*682T>A
ENST00000545712.6:c.*48T>A	ENSP00000445920.1:n.*48T>A
NM_052845.3:c.*48T>A	NP_443077.1:n.*48T>A
NR_038118.1:n.961T>A
XM_011538266.1:c.*148T>A	XP_011536568.1:n.*148T>A
XM_011538267.1:c.*148T>A	XP_011536569.1:n.*148T>A
XM_011538268.1:c.*48T>A	XP_011536570.1:n.*48T>A
XM_011538269.1:c.*48T>A	XP_011536571.1:n.*48T>A
XM_011538267.3:c.*148T>A	XP_011536569.1:n.*148T>A
XM_011538268.2:c.*48T>A	XP_011536570.1:n.*48T>A
XM_011538269.2:c.*48T>A	XP_011536571.1:n.*48T>A
NM_052845.4:c.*48T>A MANE Select	NP_443077.1:n.*48T>A
NR_038118.2:n.912T>A