Canonical Allele Identifier: CA2575285405

Gene: MMAB

Linked Data

• dbSNP Id: rs2136192647
• gnomAD v4: 12-109557156-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557156G>A , CM000674.2:g.109557156G>A	GRCh38
NC_000012.11:g.109994961G>A , CM000674.1:g.109994961G>A	GRCh37
NC_000012.10:g.108479344G>A	NCBI36
NG_007096.1:g.21342C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.645-20C>T MANE Select	ENSP00000445920.1:n.645-20C>T
ENST00000537496.5:c.*210-20C>T	ENSP00000444793.1:n.*210-20C>T
ENST00000540016.5:c.489-20C>T	ENSP00000474582.1:n.489-20C>T
ENST00000541763.6:c.870-20C>T	ENSP00000474981.1:n.870-20C>T
ENST00000544051.5:c.*526-20C>T	ENSP00000438079.1:n.*526-20C>T
ENST00000545712.6:c.645-20C>T	ENSP00000445920.1:n.645-20C>T
NM_052845.3:c.645-20C>T	NP_443077.1:n.645-20C>T
NR_038118.1:n.805-20C>T
XM_011538266.1:c.490-20C>T	XP_011536568.1:n.490-20C>T
XM_011538267.1:c.490-20C>T	XP_011536569.1:n.490-20C>T
XM_011538268.1:c.372-20C>T	XP_011536570.1:n.372-20C>T
XM_011538269.1:c.369-20C>T	XP_011536571.1:n.369-20C>T
XM_011538267.3:c.490-20C>T	XP_011536569.1:n.490-20C>T
XM_011538268.2:c.372-20C>T	XP_011536570.1:n.372-20C>T
XM_011538269.2:c.369-20C>T	XP_011536571.1:n.369-20C>T
NM_052845.4:c.645-20C>T MANE Select	NP_443077.1:n.645-20C>T
NR_038118.2:n.756-20C>T