Canonical Allele Identifier: CA2620810337
Gene: MMAB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109557146C>T , CM000674.2:g.109557146C>T GRCh38
NC_000012.11:g.109994951C>T , CM000674.1:g.109994951C>T GRCh37
NC_000012.10:g.108479334C>T NCBI36
NG_007096.1:g.21352G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000545712.7:c.645-10G>A MANE Select ENSP00000445920.1:n.645-10G>A
ENST00000537496.5:c.*210-10G>A ENSP00000444793.1:n.*210-10G>A
ENST00000540016.5:c.489-10G>A ENSP00000474582.1:n.489-10G>A
ENST00000541763.6:c.870-10G>A ENSP00000474981.1:n.870-10G>A
ENST00000544051.5:c.*526-10G>A ENSP00000438079.1:n.*526-10G>A
ENST00000545712.6:c.645-10G>A ENSP00000445920.1:n.645-10G>A
NM_052845.3:c.645-10G>A NP_443077.1:n.645-10G>A
NR_038118.1:n.805-10G>A
XM_011538266.1:c.490-10G>A XP_011536568.1:n.490-10G>A
XM_011538267.1:c.490-10G>A XP_011536569.1:n.490-10G>A
XM_011538268.1:c.372-10G>A XP_011536570.1:n.372-10G>A
XM_011538269.1:c.369-10G>A XP_011536571.1:n.369-10G>A
XM_011538267.3:c.490-10G>A XP_011536569.1:n.490-10G>A
XM_011538268.2:c.372-10G>A XP_011536570.1:n.372-10G>A
XM_011538269.2:c.369-10G>A XP_011536571.1:n.369-10G>A
NM_052845.4:c.645-10G>A MANE Select NP_443077.1:n.645-10G>A
NR_038118.2:n.756-10G>A