Canonical Allele Identifier: CA383683374
Gene: EMG1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6974559T>C , CM000674.2:g.6974559T>C GRCh38
NC_000012.11:g.7083721T>C , CM000674.1:g.7083721T>C GRCh37
NC_000012.10:g.6953982T>C NCBI36
NG_021408.1:g.8779T>C
NG_021408.2:g.8779T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000599672.6:c.278T>C MANE Select ENSP00000470560.1:p.Leu93Pro
ENST00000261406.7:c.260T>C ENSP00000476966.2:p.Leu87Pro
ENST00000539196.2:c.141T>C
ENST00000599672.5:c.278T>C ENSP00000470560.1:p.Leu93Pro
ENST00000607161.5:c.281T>C ENSP00000480420.1:p.Leu94Pro
ENST00000611981.1:n.289T>C
ENST00000620255.1:n.378T>C
NM_006331.7:c.278T>C NP_006322.4:p.Leu93Pro
XM_011520907.1:c.278T>C XP_011519209.1:p.Leu93Pro
NM_001320049.1:c.278T>C NP_001306978.1:p.Leu93Pro
NR_135131.1:n.421T>C
NM_006331.8:c.278T>C MANE Select NP_006322.4:p.Leu93Pro
NM_001320049.2:c.278T>C NP_001306978.1:p.Leu93Pro
NR_135131.2:n.289T>C