Canonical Allele Identifier: CA49769275
Community Standard Title: NM_001130987.2(DYSF):c.5687A>G (p.His1896Arg)
Gene: DYSF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71669649A>G , CM000664.2:g.71669649A>G GRCh38
NC_000002.11:g.71896779A>G , CM000664.1:g.71896779A>G GRCh37
NC_000002.10:g.71750287A>G NCBI36
NG_008694.1:g.221027A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001130987.2:c.5687A>G MANE Select NP_001124459.1:p.His1896Arg
ENST00000410020.8:c.5687A>G MANE Select ENSP00000386881.3:p.His1896Arg
NM_003494.4:c.5570A>G MANE Plus Clinical NP_003485.1:p.His1857Arg
ENST00000258104.8:c.5570A>G MANE Plus Clinical ENSP00000258104.3:p.His1857Arg
NM_001130455.1:c.5573A>G NP_001123927.1:p.His1858Arg
NM_001130455.2:c.5573A>G NP_001123927.1:p.His1858Arg
NM_001130976.1:c.5528A>G NP_001124448.1:p.His1843Arg
NM_001130976.2:c.5528A>G NP_001124448.1:p.His1843Arg
NM_001130977.1:c.5591A>G NP_001124449.1:p.His1864Arg
NM_001130977.2:c.5591A>G NP_001124449.1:p.His1864Arg
NM_001130978.1:c.5633A>G NP_001124450.1:p.His1878Arg
NM_001130978.2:c.5633A>G NP_001124450.1:p.His1878Arg
NM_001130979.1:c.5663A>G NP_001124451.1:p.His1888Arg
NM_001130979.2:c.5663A>G NP_001124451.1:p.His1888Arg
NM_001130980.1:c.5621A>G NP_001124452.1:p.His1874Arg
NM_001130980.2:c.5621A>G NP_001124452.1:p.His1874Arg
NM_001130981.1:c.5684A>G NP_001124453.1:p.His1895Arg
NM_001130981.2:c.5684A>G NP_001124453.1:p.His1895Arg
NM_001130982.1:c.5666A>G NP_001124454.1:p.His1889Arg
NM_001130982.2:c.5666A>G NP_001124454.1:p.His1889Arg
NM_001130983.1:c.5636A>G NP_001124455.1:p.His1879Arg
NM_001130983.2:c.5636A>G NP_001124455.1:p.His1879Arg
NM_001130984.1:c.5594A>G NP_001124456.1:p.His1865Arg
NM_001130984.2:c.5594A>G NP_001124456.1:p.His1865Arg
NM_001130985.1:c.5624A>G NP_001124457.1:p.His1875Arg
NM_001130985.2:c.5624A>G NP_001124457.1:p.His1875Arg
NM_001130986.1:c.5531A>G NP_001124458.1:p.His1844Arg
NM_001130986.2:c.5531A>G NP_001124458.1:p.His1844Arg
NM_001130987.1:c.5687A>G NP_001124459.1:p.His1896Arg
NM_003494.3:c.5570A>G NP_003485.1:p.His1857Arg
ENST00000258104.7:c.5570A>G ENSP00000258104.3:p.His1857Arg
ENST00000394120.6:c.5573A>G ENSP00000377678.2:p.His1858Arg
ENST00000409366.5:c.5636A>G ENSP00000386512.1:p.His1879Arg
ENST00000409582.7:c.5684A>G ENSP00000386547.3:p.His1895Arg
ENST00000409651.5:c.5666A>G ENSP00000386683.1:p.His1889Arg
ENST00000409744.5:c.5594A>G ENSP00000386285.1:p.His1865Arg
ENST00000409762.5:c.5621A>G ENSP00000387137.1:p.His1874Arg
ENST00000410020.7:c.5687A>G ENSP00000386881.3:p.His1896Arg
ENST00000410041.1:c.5624A>G ENSP00000386617.1:p.His1875Arg
ENST00000413539.6:c.5663A>G ENSP00000407046.2:p.His1888Arg
ENST00000429174.6:c.5633A>G ENSP00000398305.2:p.His1878Arg
ENST00000479049.6:n.2455A>G
ENST00000698057.1:c.3101A>G ENSP00000513536.1:p.His1034Arg
ENST00000698058.1:c.2318A>G ENSP00000513537.1:p.His773Arg
ENST00000698059.1:c.2426A>G ENSP00000513538.1:p.His809Arg
XM_005264584.3:c.5729A>G XP_005264641.1:p.His1910Arg
XM_005264584.4:c.5729A>G XP_005264641.1:p.His1910Arg
XM_005264585.3:c.5726A>G XP_005264642.1:p.His1909Arg
XM_005264585.5:c.5726A>G XP_005264642.1:p.His1909Arg