Canonical Allele Identifier: CA2342728623
Community Standard Title: NM_024298.5(MBOAT7):c.*549A=
Gene: MBOAT7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.54173495T= , CM000681.2:g.54173495T= GRCh38
NG_033045.2:g.21381A=

Transcript Alleles

HGVS Amino-acid Change
NM_024298.5:c.*549A= MANE Select NP_077274.3:n.*549A=
ENST00000245615.6:c.*549A= MANE Select ENSP00000245615.1:n.*549A=
NM_001146056.2:c.*549A= NP_001139528.1:n.*549A=
NM_001146056.3:c.*549A= NP_001139528.1:n.*549A=
NM_001146083.2:c.*549A= NP_001139555.1:n.*549A=
NM_001146083.3:c.*549A= NP_001139555.1:n.*549A=
NM_024298.4:c.*549A= NP_077274.3:n.*549A=
ENST00000245615.5:c.*549A= ENSP00000245615.1:n.*549A=
ENST00000338624.10:c.*549A= ENSP00000344377.5:n.*549A=
ENST00000431666.6:c.*549A= ENSP00000410503.2:n.*549A=
ENST00000437868.5:c.*1628A= ENSP00000404915.1:n.*1628A=
ENST00000494142.1:n.2963A=
XM_011527299.1:c.*549A= XP_011525601.1:n.*549A=
XM_011527299.3:c.*549A= XP_011525601.1:n.*549A=
XM_011527300.1:c.*549A= XP_011525602.1:n.*549A=
XM_011527300.2:c.*549A= XP_011525602.1:n.*549A=
XR_002958417.1:n.570T=