Canonical Allele Identifier: CA2617379477
Gene: EMG1 HGNC NCBI

Linked Data

gnomAD v4: 12-6974230-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6974230A>T , CM000674.2:g.6974230A>T GRCh38
NC_000012.11:g.7083392A>T , CM000674.1:g.7083392A>T GRCh37
NC_000012.10:g.6953653A>T NCBI36
NG_021408.1:g.8450A>T
NG_021408.2:g.8450A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000599672.6:c.169-109A>T MANE Select ENSP00000470560.1:n.169-109A>T
ENST00000261406.7:c.151-109A>T ENSP00000476966.2:n.151-109A>T
ENST00000539196.2:c.32-109A>T
ENST00000599672.5:c.169-109A>T ENSP00000470560.1:n.169-109A>T
ENST00000607161.5:c.172-109A>T ENSP00000480420.1:n.172-109A>T
ENST00000611981.1:n.180-109A>T
ENST00000620255.1:n.158-109A>T
NM_006331.7:c.169-109A>T NP_006322.4:n.169-109A>T
XM_011520907.1:c.169-109A>T XP_011519209.1:n.169-109A>T
NM_001320049.1:c.169-109A>T NP_001306978.1:n.169-109A>T
NR_135131.1:n.312-109A>T
NM_006331.8:c.169-109A>T MANE Select NP_006322.4:n.169-109A>T
NM_001320049.2:c.169-109A>T NP_001306978.1:n.169-109A>T
NR_135131.2:n.180-109A>T