Canonical Allele Identifier: CA1872153789
Gene: MUSK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.110687209C= , CM000671.2:g.110687209C= GRCh38
NC_000009.11:g.113449489C= , CM000671.1:g.113449489C= GRCh37
NC_000009.10:g.112489310C= NCBI36
NG_016016.1:g.23439C=
NG_016016.2:g.23419C=

Transcript Alleles

HGVS Amino-acid Change
NM_005592.4:c.299C= MANE Select NP_005583.1:p.Thr100=
ENST00000374448.9:c.299C= MANE Select ENSP00000363571.4:p.Thr100=
NM_001166280.1:c.299C= NP_001159752.1:p.Thr100=
NM_001166280.2:c.299C= NP_001159752.1:p.Thr100=
NM_001166281.1:c.299C= NP_001159753.1:p.Thr100=
NM_001166281.2:c.299C= NP_001159753.1:p.Thr100=
NM_005592.3:c.299C= NP_005583.1:p.Thr100=
ENST00000189978.10:c.299C= ENSP00000189978.6:p.Thr100=
ENST00000374440.7:c.299C= ENSP00000363563.4:p.Thr100=
ENST00000374448.8:c.299C= ENSP00000363571.4:p.Thr100=
ENST00000416899.7:c.299C= ENSP00000393608.3:p.Thr100=
XM_005251994.2:c.299C= XP_005252051.1:p.Thr100=
XM_005251994.3:c.299C= XP_005252051.1:p.Thr100=
XM_005251995.2:c.299C= XP_005252052.1:p.Thr100=
XM_005251995.3:c.299C= XP_005252052.1:p.Thr100=
XM_005251996.2:c.299C= XP_005252053.1:p.Thr100=
XM_005251996.3:c.299C= XP_005252053.1:p.Thr100=
XM_011518707.1:c.299C= XP_011517009.1:p.Thr100=
XM_017014734.1:c.299C= XP_016870223.1:p.Thr100=