LDH info

Canonical Allele Identifier: CA1705868
Gene: DYSF HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 285177
dbSNP Id: rs189923208

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71551040G>A , CM000664.2:g.71551040G>A GRCh38
NC_000002.11:g.71778170G>A , CM000664.1:g.71778170G>A GRCh37
NC_000002.10:g.71631678G>A NCBI36
NG_008694.1:g.102418G>A

Transcript Alleles

HGVS Amino-acid change
NM_001130455.1:c.1526-1G>A VV NP_001123927.1:p.=
NM_001130976.1:c.1481-1G>A VV NP_001124448.1:p.=
NM_001130977.1:c.1481-1G>A VV NP_001124449.1:p.=
NM_001130978.1:c.1523-1G>A VV NP_001124450.1:p.=
NM_001130979.1:c.1616-1G>A VV NP_001124451.1:p.=
NM_001130980.1:c.1574-1G>A VV NP_001124452.1:p.=
NM_001130981.1:c.1574-1G>A VV NP_001124453.1:p.=
NM_001130982.1:c.1619-1G>A VV NP_001124454.1:p.=
NM_001130983.1:c.1526-1G>A VV NP_001124455.1:p.=
NM_001130984.1:c.1484-1G>A VV NP_001124456.1:p.=
NM_001130985.1:c.1577-1G>A VV NP_001124457.1:p.=
NM_001130986.1:c.1484-1G>A VV NP_001124458.1:p.=
NM_001130987.1:c.1577-1G>A VV NP_001124459.1:p.=
NM_003494.3:c.1523-1G>A VV NP_003485.1:p.=
XM_005264584.3:c.1619-1G>A XP_005264641.1:p.=
XM_005264585.3:c.1616-1G>A XP_005264642.1:p.=
XM_005264584.4:c.1619-1G>A XP_005264641.1:p.=
XM_005264585.5:c.1616-1G>A XP_005264642.1:p.=
XR_001738969.1:n.1777-1G>A
NM_001130987.2:c.1577-1G>A VV MANE Preferred NP_001124459.1:p.=
ENST00000258104.7:c.1523-1G>A ENSP00000258104.3:p.=
ENST00000394120.6:c.1526-1G>A ENSP00000377678.2:p.=
ENST00000409366.5:c.1526-1G>A ENSP00000386512.1:p.=
ENST00000409582.7:c.1574-1G>A ENSP00000386547.3:p.=
ENST00000409651.5:c.1619-1G>A ENSP00000386683.1:p.=
ENST00000409744.5:c.1484-1G>A ENSP00000386285.1:p.=
ENST00000409762.5:c.1574-1G>A ENSP00000387137.1:p.=
ENST00000410020.7:c.1577-1G>A ENSP00000386881.3:p.=
ENST00000410041.1:c.1577-1G>A ENSP00000386617.1:p.=
ENST00000413539.6:c.1616-1G>A ENSP00000407046.2:p.=
ENST00000429174.6:c.1523-1G>A ENSP00000398305.2:p.=