Canonical Allele Identifier: CA10354843

Gene: BMX ACE2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.15522377A>G , CM000685.2:g.15522377A>G	GRCh38
NC_000023.10:g.15540500A>G , CM000685.1:g.15540500A>G	GRCh37
NC_000023.9:g.15450421A>G	NCBI36
NG_013227.1:g.26601A>G
NG_012575.2:g.84782T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348343.11:c.542A>G (BMX) MANE Select	ENSP00000308774.6:p.Lys181Arg
ENST00000679162.1:c.2310-21792T>C (ACE2)	ENSP00000503771.1:n.2310-21792T>C
ENST00000679212.1:c.2310-27528T>C (ACE2)	ENSP00000503558.1:n.2310-27528T>C
ENST00000679278.1:c.2310-3398T>C (ACE2)	ENSP00000504010.1:n.2310-3398T>C
ENST00000342014.6:c.542A>G (BMX)	ENSP00000340082.6:p.Lys181Arg
ENST00000348343.10:c.542A>G (BMX)	ENSP00000308774.6:p.Lys181Arg
ENST00000357607.6:c.542A>G (BMX)	ENSP00000350224.2:p.Lys181Arg
NM_001721.6:c.542A>G (BMX)	NP_001712.1:p.Lys181Arg
NM_203281.2:c.542A>G (BMX)	NP_975010.1:p.Lys181Arg
XM_006724510.2:c.542A>G (BMX)	XP_006724573.1:p.Lys181Arg
XM_011545549.1:c.2310-3398T>C (ACE2)	XP_011543851.1:n.2310-3398T>C
XM_011545550.1:c.2310-21792T>C (ACE2)	XP_011543852.1:n.2310-21792T>C
XM_011545551.1:c.2310-27528T>C (ACE2)	XP_011543853.1:n.2310-27528T>C
NM_001320866.1:c.542A>G (BMX)	NP_001307795.1:p.Lys181Arg
XM_011545549.2:c.2310-3398T>C (ACE2)	XP_011543851.1:n.2310-3398T>C
XM_011545551.3:c.2310-27528T>C (ACE2)	XP_011543853.1:n.2310-27528T>C
XM_017029752.2:c.542A>G (BMX)	XP_016885241.1:p.Lys181Arg
NM_203281.3:c.542A>G (BMX) MANE Select	NP_975010.1:p.Lys181Arg
NM_001320866.2:c.542A>G (BMX)	NP_001307795.1:p.Lys181Arg
NM_001721.7:c.542A>G (BMX)	NP_001712.1:p.Lys181Arg
NM_001386259.1:c.2310-3398T>C (ACE2)	NP_001373188.1:n.2310-3398T>C