Canonical Allele Identifier: CA16043436
Gene: MUSK HGNC NCBI

Linked Data

ClinVar Variation Id: 374195
ClinVar RCV Id: RCV000415334 RCV001198407 RCV003129855
dbSNP Id: rs1057518966
gnomAD v4: 9-110800743-G-A
MyVariant Identifiers: chr9:g.113563023G>A (hg19) chr9:g.110800743G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.110800743G>A , CM000671.2:g.110800743G>A GRCh38
NC_000009.11:g.113563023G>A , CM000671.1:g.113563023G>A GRCh37
NC_000009.10:g.112602844G>A NCBI36
NG_016016.1:g.136973G>A
NG_016016.2:g.136953G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000374448.9:c.2365G>A MANE Select ENSP00000363571.4:p.Gly789Ser
ENST00000189978.10:c.2107G>A ENSP00000189978.6:p.Gly703Ser
ENST00000374440.7:c.2107G>A ENSP00000363563.4:p.Gly703Ser
ENST00000374448.8:c.2365G>A ENSP00000363571.4:p.Gly789Ser
ENST00000416899.7:c.2341G>A ENSP00000393608.3:p.Gly781Ser
NM_001166280.1:c.2107G>A NP_001159752.1:p.Gly703Ser
NM_001166281.1:c.2077G>A NP_001159753.1:p.Gly693Ser
NM_005592.3:c.2365G>A NP_005583.1:p.Gly789Ser
XM_005251994.2:c.2395G>A XP_005252051.1:p.Gly799Ser
XM_005251995.2:c.2371G>A XP_005252052.1:p.Gly791Ser
XM_005251996.2:c.2341G>A XP_005252053.1:p.Gly781Ser
XM_011518707.1:c.2425G>A XP_011517009.1:p.Gly809Ser
XM_011518708.1:c.1129G>A XP_011517010.1:p.Gly377Ser
XM_005251994.3:c.2395G>A XP_005252051.1:p.Gly799Ser
XM_005251995.3:c.2371G>A XP_005252052.1:p.Gly791Ser
XM_005251996.3:c.2341G>A XP_005252053.1:p.Gly781Ser
XM_011518708.2:c.1129G>A XP_011517010.1:p.Gly377Ser
XM_017014734.1:c.2131G>A XP_016870223.1:p.Gly711Ser
NM_001166280.2:c.2107G>A NP_001159752.1:p.Gly703Ser
NM_001166281.2:c.2077G>A NP_001159753.1:p.Gly693Ser
NM_001369398.1:c.1105G>A NP_001356327.1:p.Gly369Ser
NM_005592.4:c.2365G>A MANE Select NP_005583.1:p.Gly789Ser
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