Canonical Allele Identifier: CA5183990

Gene: MUSK

Linked Data

• ClinVar Variation Id: 259810
• ClinVar RCV Id: RCV000244147 ; RCV002058193
• dbSNP Id: rs144807641
• ExAC: 9:113449568 G / A
• gnomAD v2: 9-113449568-G-A
• gnomAD v3: 9-110687288-G-A
• gnomAD v4: 9-110687288-G-A
• MyVariant Identifiers: chr9:g.113449568G>A (hg19) ; chr9:g.110687288G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.110687288G>A , CM000671.2:g.110687288G>A	GRCh38
NC_000009.11:g.113449568G>A , CM000671.1:g.113449568G>A	GRCh37
NC_000009.10:g.112489389G>A	NCBI36
NG_016016.1:g.23518G>A
NG_016016.2:g.23498G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374448.9:c.358+20G>A MANE Select	ENSP00000363571.4:n.358+20G>A
ENST00000189978.10:c.358+20G>A	ENSP00000189978.6:n.358+20G>A
ENST00000374439.1:c.52+20G>A	ENSP00000363562.2:n.52+20G>A
ENST00000374440.7:c.358+20G>A	ENSP00000363563.4:n.358+20G>A
ENST00000374448.8:c.358+20G>A	ENSP00000363571.4:n.358+20G>A
ENST00000416899.7:c.358+20G>A	ENSP00000393608.3:n.358+20G>A
NM_001166280.1:c.358+20G>A	NP_001159752.1:n.358+20G>A
NM_001166281.1:c.358+20G>A	NP_001159753.1:n.358+20G>A
NM_005592.3:c.358+20G>A	NP_005583.1:n.358+20G>A
XM_005251994.2:c.358+20G>A	XP_005252051.1:n.358+20G>A
XM_005251995.2:c.358+20G>A	XP_005252052.1:n.358+20G>A
XM_005251996.2:c.358+20G>A	XP_005252053.1:n.358+20G>A
XM_011518707.1:c.358+20G>A	XP_011517009.1:n.358+20G>A
XM_005251994.3:c.358+20G>A	XP_005252051.1:n.358+20G>A
XM_005251995.3:c.358+20G>A	XP_005252052.1:n.358+20G>A
XM_005251996.3:c.358+20G>A	XP_005252053.1:n.358+20G>A
XM_017014734.1:c.358+20G>A	XP_016870223.1:n.358+20G>A
NM_001166280.2:c.358+20G>A	NP_001159752.1:n.358+20G>A
NM_001166281.2:c.358+20G>A	NP_001159753.1:n.358+20G>A
NM_005592.4:c.358+20G>A MANE Select	NP_005583.1:n.358+20G>A