Canonical Allele Identifier: CA2575285419

Gene: MMAB

Linked Data

• gnomAD v4: 12-109557207-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557207C>A , CM000674.2:g.109557207C>A	GRCh38
NC_000012.11:g.109995012C>A , CM000674.1:g.109995012C>A	GRCh37
NC_000012.10:g.108479395C>A	NCBI36
NG_007096.1:g.21291G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.645-71G>T MANE Select	ENSP00000445920.1:n.645-71G>T
ENST00000537496.5:c.*210-71G>T	ENSP00000444793.1:n.*210-71G>T
ENST00000540016.5:c.489-71G>T	ENSP00000474582.1:n.489-71G>T
ENST00000541763.6:c.870-71G>T	ENSP00000474981.1:n.870-71G>T
ENST00000544051.5:c.*526-71G>T	ENSP00000438079.1:n.*526-71G>T
ENST00000545712.6:c.645-71G>T	ENSP00000445920.1:n.645-71G>T
NM_052845.3:c.645-71G>T	NP_443077.1:n.645-71G>T
NR_038118.1:n.805-71G>T
XM_011538266.1:c.490-71G>T	XP_011536568.1:n.490-71G>T
XM_011538267.1:c.490-71G>T	XP_011536569.1:n.490-71G>T
XM_011538268.1:c.372-71G>T	XP_011536570.1:n.372-71G>T
XM_011538269.1:c.369-71G>T	XP_011536571.1:n.369-71G>T
XM_011538267.3:c.490-71G>T	XP_011536569.1:n.490-71G>T
XM_011538268.2:c.372-71G>T	XP_011536570.1:n.372-71G>T
XM_011538269.2:c.369-71G>T	XP_011536571.1:n.369-71G>T
NM_052845.4:c.645-71G>T MANE Select	NP_443077.1:n.645-71G>T
NR_038118.2:n.756-71G>T