Canonical Allele Identifier: CA10613918
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 336985
dbSNP Id: rs181677134
gnomAD v2: 2-71913889-C-G
gnomAD v3: 2-71686759-C-G
gnomAD v4: 2-71686759-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71686759C>G , CM000664.2:g.71686759C>G GRCh38
NC_000002.11:g.71913889C>G , CM000664.1:g.71913889C>G GRCh37
NC_000002.10:g.71767397C>G NCBI36
NG_008694.1:g.238137C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000258104.8:c.*267C>G MANE Plus Clinical ENSP00000258104.3:n.*267C>G
ENST00000410020.8:c.*267C>G MANE Select ENSP00000386881.3:n.*267C>G
ENST00000258104.7:c.*267C>G ENSP00000258104.3:n.*267C>G
ENST00000479049.6:n.3395C>G
NM_001130455.1:c.*267C>G NP_001123927.1:n.*267C>G
NM_001130976.1:c.*267C>G NP_001124448.1:n.*267C>G
NM_001130977.1:c.*267C>G NP_001124449.1:n.*267C>G
NM_001130978.1:c.*267C>G NP_001124450.1:n.*267C>G
NM_001130979.1:c.*267C>G NP_001124451.1:n.*267C>G
NM_001130980.1:c.*267C>G NP_001124452.1:n.*267C>G
NM_001130981.1:c.*267C>G NP_001124453.1:n.*267C>G
NM_001130982.1:c.*267C>G NP_001124454.1:n.*267C>G
NM_001130983.1:c.*267C>G NP_001124455.1:n.*267C>G
NM_001130984.1:c.*267C>G NP_001124456.1:n.*267C>G
NM_001130985.1:c.*267C>G NP_001124457.1:n.*267C>G
NM_001130986.1:c.*267C>G NP_001124458.1:n.*267C>G
NM_001130987.1:c.*267C>G NP_001124459.1:n.*267C>G
NM_003494.3:c.*267C>G NP_003485.1:n.*267C>G
XM_005264584.3:c.*267C>G XP_005264641.1:n.*267C>G
XM_005264585.3:c.*267C>G XP_005264642.1:n.*267C>G
XM_005264584.4:c.*267C>G XP_005264641.1:n.*267C>G
XM_005264585.5:c.*267C>G XP_005264642.1:n.*267C>G
NM_001130987.2:c.*267C>G MANE Select NP_001124459.1:n.*267C>G
NM_001130455.2:c.*267C>G NP_001123927.1:n.*267C>G
NM_001130976.2:c.*267C>G NP_001124448.1:n.*267C>G
NM_001130977.2:c.*267C>G NP_001124449.1:n.*267C>G
NM_001130978.2:c.*267C>G NP_001124450.1:n.*267C>G
NM_001130979.2:c.*267C>G NP_001124451.1:n.*267C>G
NM_001130980.2:c.*267C>G NP_001124452.1:n.*267C>G
NM_001130981.2:c.*267C>G NP_001124453.1:n.*267C>G
NM_001130982.2:c.*267C>G NP_001124454.1:n.*267C>G
NM_001130983.2:c.*267C>G NP_001124455.1:n.*267C>G
NM_001130984.2:c.*267C>G NP_001124456.1:n.*267C>G
NM_001130985.2:c.*267C>G NP_001124457.1:n.*267C>G
NM_001130986.2:c.*267C>G NP_001124458.1:n.*267C>G
NM_003494.4:c.*267C>G MANE Plus Clinical NP_003485.1:n.*267C>G