Canonical Allele Identifier: CA147736
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 94290
dbSNP Id: rs2288355
gnomAD v2: 2-71795152-A-T
gnomAD v3: 2-71568022-A-T
gnomAD v4: 2-71568022-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71568022A>T , CM000664.2:g.71568022A>T GRCh38
NC_000002.11:g.71795152A>T , CM000664.1:g.71795152A>T GRCh37
NC_000002.10:g.71648660A>T NCBI36
NG_008694.1:g.119400A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000698057.1:c.9A>T ENSP00000513536.1:p.Ser3=
ENST00000258104.8:c.2583A>T MANE Plus Clinical ENSP00000258104.3:p.Ser861=
ENST00000410020.8:c.2637A>T MANE Select ENSP00000386881.3:p.Ser879=
ENST00000258104.7:c.2583A>T ENSP00000258104.3:p.Ser861=
ENST00000394120.6:c.2586A>T ENSP00000377678.2:p.Ser862=
ENST00000409366.5:c.2586A>T ENSP00000386512.1:p.Ser862=
ENST00000409582.7:c.2634A>T ENSP00000386547.3:p.Ser878=
ENST00000409651.5:c.2679A>T ENSP00000386683.1:p.Ser893=
ENST00000409744.5:c.2544A>T ENSP00000386285.1:p.Ser848=
ENST00000409762.5:c.2634A>T ENSP00000387137.1:p.Ser878=
ENST00000410020.7:c.2637A>T ENSP00000386881.3:p.Ser879=
ENST00000410041.1:c.2637A>T ENSP00000386617.1:p.Ser879=
ENST00000413539.6:c.2676A>T ENSP00000407046.2:p.Ser892=
ENST00000429174.6:c.2583A>T ENSP00000398305.2:p.Ser861=
NM_001130455.1:c.2586A>T NP_001123927.1:p.Ser862=
NM_001130976.1:c.2541A>T NP_001124448.1:p.Ser847=
NM_001130977.1:c.2541A>T NP_001124449.1:p.Ser847=
NM_001130978.1:c.2583A>T NP_001124450.1:p.Ser861=
NM_001130979.1:c.2676A>T NP_001124451.1:p.Ser892=
NM_001130980.1:c.2634A>T NP_001124452.1:p.Ser878=
NM_001130981.1:c.2634A>T NP_001124453.1:p.Ser878=
NM_001130982.1:c.2679A>T NP_001124454.1:p.Ser893=
NM_001130983.1:c.2586A>T NP_001124455.1:p.Ser862=
NM_001130984.1:c.2544A>T NP_001124456.1:p.Ser848=
NM_001130985.1:c.2637A>T NP_001124457.1:p.Ser879=
NM_001130986.1:c.2544A>T NP_001124458.1:p.Ser848=
NM_001130987.1:c.2637A>T NP_001124459.1:p.Ser879=
NM_003494.3:c.2583A>T NP_003485.1:p.Ser861=
XM_005264584.3:c.2679A>T XP_005264641.1:p.Ser893=
XM_005264585.3:c.2676A>T XP_005264642.1:p.Ser892=
XM_005264584.4:c.2679A>T XP_005264641.1:p.Ser893=
XM_005264585.5:c.2676A>T XP_005264642.1:p.Ser892=
XR_001738969.1:n.2837A>T
NM_001130987.2:c.2637A>T MANE Select NP_001124459.1:p.Ser879=
NM_001130455.2:c.2586A>T NP_001123927.1:p.Ser862=
NM_001130976.2:c.2541A>T NP_001124448.1:p.Ser847=
NM_001130977.2:c.2541A>T NP_001124449.1:p.Ser847=
NM_001130978.2:c.2583A>T NP_001124450.1:p.Ser861=
NM_001130979.2:c.2676A>T NP_001124451.1:p.Ser892=
NM_001130980.2:c.2634A>T NP_001124452.1:p.Ser878=
NM_001130981.2:c.2634A>T NP_001124453.1:p.Ser878=
NM_001130982.2:c.2679A>T NP_001124454.1:p.Ser893=
NM_001130983.2:c.2586A>T NP_001124455.1:p.Ser862=
NM_001130984.2:c.2544A>T NP_001124456.1:p.Ser848=
NM_001130985.2:c.2637A>T NP_001124457.1:p.Ser879=
NM_001130986.2:c.2544A>T NP_001124458.1:p.Ser848=
NM_003494.4:c.2583A>T MANE Plus Clinical NP_003485.1:p.Ser861=