Canonical Allele Identifier: CA5184067

Gene: MUSK

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.110697488C>G , CM000671.2:g.110697488C>G	GRCh38
NC_000009.11:g.113459768C>G , CM000671.1:g.113459768C>G	GRCh37
NC_000009.10:g.112499589C>G	NCBI36
NG_016016.1:g.33718C>G
NG_016016.2:g.33698C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374448.9:c.628+22C>G MANE Select	ENSP00000363571.4:n.628+22C>G
ENST00000189978.10:c.628+22C>G	ENSP00000189978.6:n.628+22C>G
ENST00000374439.1:c.322+22C>G	ENSP00000363562.2:n.322+22C>G
ENST00000374440.7:c.628+22C>G	ENSP00000363563.4:n.628+22C>G
ENST00000374448.8:c.628+22C>G	ENSP00000363571.4:n.628+22C>G
ENST00000416899.7:c.628+22C>G	ENSP00000393608.3:n.628+22C>G
NM_001166280.1:c.628+22C>G	NP_001159752.1:n.628+22C>G
NM_001166281.1:c.628+22C>G	NP_001159753.1:n.628+22C>G
NM_005592.3:c.628+22C>G	NP_005583.1:n.628+22C>G
XM_005251994.2:c.628+22C>G	XP_005252051.1:n.628+22C>G
XM_005251995.2:c.628+22C>G	XP_005252052.1:n.628+22C>G
XM_005251996.2:c.628+22C>G	XP_005252053.1:n.628+22C>G
XM_011518707.1:c.628+22C>G	XP_011517009.1:n.628+22C>G
XM_005251994.3:c.628+22C>G	XP_005252051.1:n.628+22C>G
XM_005251995.3:c.628+22C>G	XP_005252052.1:n.628+22C>G
XM_005251996.3:c.628+22C>G	XP_005252053.1:n.628+22C>G
XM_017014734.1:c.628+22C>G	XP_016870223.1:n.628+22C>G
NM_001166280.2:c.628+22C>G	NP_001159752.1:n.628+22C>G
NM_001166281.2:c.628+22C>G	NP_001159753.1:n.628+22C>G
NM_005592.4:c.628+22C>G MANE Select	NP_005583.1:n.628+22C>G