Canonical Allele Identifier: CA607285137
Gene: MMAB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109556171C>A , CM000674.2:g.109556171C>A GRCh38
NC_000012.11:g.109993976C>A , CM000674.1:g.109993976C>A GRCh37
NC_000012.10:g.108478359C>A NCBI36
NG_007096.1:g.22327G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000545712.7:c.*857G>T MANE Select ENSP00000445920.1:n.*857G>T
ENST00000545712.6:c.*857G>T ENSP00000445920.1:n.*857G>T
NM_052845.3:c.*857G>T NP_443077.1:n.*857G>T
NR_038118.1:n.1770G>T
NM_052845.4:c.*857G>T MANE Select NP_443077.1:n.*857G>T
NR_038118.2:n.1721G>T