Canonical Allele Identifier: CA2062444121
Gene: MMAB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109557095A= , CM000674.2:g.109557095A= GRCh38
NC_000012.11:g.109994900A= , CM000674.1:g.109994900A= GRCh37
NC_000012.10:g.108479283A= NCBI36
NG_007096.1:g.21403T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000545712.7:c.686T= MANE Select ENSP00000445920.1:p.Met229=
ENST00000537496.5:c.*251T= ENSP00000444793.1:n.*251T=
ENST00000540016.5:c.530T= ENSP00000474582.1:p.Met177=
ENST00000541763.6:c.911T= ENSP00000474981.1:n.911T=
ENST00000544051.5:c.*567T= ENSP00000438079.1:n.*567T=
ENST00000545712.6:c.686T= ENSP00000445920.1:p.Met229=
NM_052845.3:c.686T= NP_443077.1:p.Met229=
NR_038118.1:n.846T=
XM_011538266.1:c.*33T= XP_011536568.1:n.*33T=
XM_011538267.1:c.*33T= XP_011536569.1:n.*33T=
XM_011538268.1:c.413T= XP_011536570.1:p.Met138=
XM_011538269.1:c.410T= XP_011536571.1:p.Met137=
XM_011538267.3:c.*33T= XP_011536569.1:n.*33T=
XM_011538268.2:c.413T= XP_011536570.1:p.Met138=
XM_011538269.2:c.410T= XP_011536571.1:p.Met137=
NM_052845.4:c.686T= MANE Select NP_443077.1:p.Met229=
NR_038118.2:n.797T=