Canonical Allele Identifier: CA683439676
Gene: MMAB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109562388C>G , CM000674.2:g.109562388C>G GRCh38
NC_000012.11:g.110000193C>G , CM000674.1:g.110000193C>G GRCh37
NC_000012.10:g.108484576C>G NCBI36
NG_007096.1:g.16110G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000545712.7:c.349-536G>C MANE Select ENSP00000445920.1:n.349-536G>C
ENST00000420167.6:c.*178-536G>C ENSP00000416136.2:n.*178-536G>C
ENST00000503497.7:c.*59-536G>C ENSP00000474881.1:n.*59-536G>C
ENST00000537496.5:c.349-536G>C ENSP00000444793.1:n.349-536G>C
ENST00000540016.5:c.193-536G>C ENSP00000474582.1:n.193-536G>C
ENST00000541763.6:c.349-536G>C ENSP00000474981.1:n.349-536G>C
ENST00000542390.5:n.376-536G>C
ENST00000544051.5:c.*143-536G>C ENSP00000438079.1:n.*143-536G>C
ENST00000545712.6:c.349-536G>C ENSP00000445920.1:n.349-536G>C
NM_052845.3:c.349-536G>C NP_443077.1:n.349-536G>C
NR_038118.1:n.422-536G>C
XM_011538266.1:c.107-536G>C XP_011536568.1:n.107-536G>C
XM_011538267.1:c.107-536G>C XP_011536569.1:n.107-536G>C
XM_011538268.1:c.76-536G>C XP_011536570.1:n.76-536G>C
XM_011538269.1:c.73-536G>C XP_011536571.1:n.73-536G>C
XM_011538267.3:c.107-536G>C XP_011536569.1:n.107-536G>C
XM_011538268.2:c.76-536G>C XP_011536570.1:n.76-536G>C
XM_011538269.2:c.73-536G>C XP_011536571.1:n.73-536G>C
XM_024448961.1:c.349-536G>C XP_024304729.1:n.349-536G>C
NM_052845.4:c.349-536G>C MANE Select NP_443077.1:n.349-536G>C
NR_038118.2:n.373-536G>C
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