Canonical Allele Identifier: CA2617379494
Gene: EMG1 HGNC NCBI

Linked Data

gnomAD v4: 12-6974251-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6974251C>G , CM000674.2:g.6974251C>G GRCh38
NC_000012.11:g.7083413C>G , CM000674.1:g.7083413C>G GRCh37
NC_000012.10:g.6953674C>G NCBI36
NG_021408.1:g.8471C>G
NG_021408.2:g.8471C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000599672.6:c.169-88C>G MANE Select ENSP00000470560.1:n.169-88C>G
ENST00000261406.7:c.151-88C>G ENSP00000476966.2:n.151-88C>G
ENST00000539196.2:c.32-88C>G
ENST00000599672.5:c.169-88C>G ENSP00000470560.1:n.169-88C>G
ENST00000607161.5:c.172-88C>G ENSP00000480420.1:n.172-88C>G
ENST00000611981.1:n.180-88C>G
ENST00000620255.1:n.158-88C>G
NM_006331.7:c.169-88C>G NP_006322.4:n.169-88C>G
XM_011520907.1:c.169-88C>G XP_011519209.1:n.169-88C>G
NM_001320049.1:c.169-88C>G NP_001306978.1:n.169-88C>G
NR_135131.1:n.312-88C>G
NM_006331.8:c.169-88C>G MANE Select NP_006322.4:n.169-88C>G
NM_001320049.2:c.169-88C>G NP_001306978.1:n.169-88C>G
NR_135131.2:n.180-88C>G