Canonical Allele Identifier: CA179720
Gene: DMD HGNC NCBI

Linked Data

ClinVar Variation Id: 166667
dbSNP Id: rs1800280
gnomAD v2: X-31496350-C-T
gnomAD v3: X-31478233-C-T
gnomAD v4: X-31478233-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.31478233C>T , CM000685.2:g.31478233C>T GRCh38
NC_000023.10:g.31496350C>T , CM000685.1:g.31496350C>T GRCh37
NC_000023.9:g.31406271C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000358062.7:c.3656G>A ENSP00000350765.3:p.Arg1219Gln
ENST00000682238.1:c.1430G>A ENSP00000508124.1:p.Arg477Gln
ENST00000683450.1:n.2275G>A
ENST00000683957.1:n.2302G>A
ENST00000684130.1:c.1430G>A ENSP00000508037.1:p.Arg477Gln
ENST00000343523.7:c.665G>A ENSP00000340057.4:p.Arg222Gln
ENST00000357033.9:c.8810G>A MANE Select ENSP00000354923.3:p.Arg2937Gln
ENST00000619831.5:c.4778G>A ENSP00000479270.2:p.Arg1593Gln
ENST00000620040.5:c.1430G>A ENSP00000478150.2:p.Arg477Gln
ENST00000680961.1:c.1430G>A ENSP00000506386.1:p.Arg477Gln
ENST00000681646.1:n.2471G>A
ENST00000343523.6:c.623G>A ENSP00000340057.3:p.Arg208Gln
ENST00000357033.8:c.8810G>A ENSP00000354923.3:p.Arg2937Gln
ENST00000358062.6:c.1898G>A ENSP00000350765.2:p.Arg633Gln
ENST00000359836.5:c.1430G>A ENSP00000352894.1:p.Arg477Gln
ENST00000378677.6:c.8798G>A ENSP00000367948.2:p.Arg2933Gln
ENST00000378707.7:c.1430G>A ENSP00000367979.3:p.Arg477Gln
ENST00000474231.5:c.1430G>A ENSP00000417123.1:p.Arg477Gln
ENST00000541735.5:c.1430G>A ENSP00000444119.1:p.Arg477Gln
ENST00000619831.4:c.8795G>A ENSP00000479270.1:p.Arg2932Gln
ENST00000620040.4:c.8807G>A ENSP00000478150.1:p.Arg2936Gln
XM_006724468.2:c.8810G>A XP_006724531.1:p.Arg2937Gln
XM_006724469.2:c.8786G>A XP_006724532.1:p.Arg2929Gln
XM_006724470.2:c.8810G>A XP_006724533.1:p.Arg2937Gln
XM_006724471.2:c.8810G>A XP_006724534.1:p.Arg2937Gln
XM_006724472.2:c.8681G>A XP_006724535.1:p.Arg2894Gln
XM_006724473.2:c.8672G>A XP_006724536.1:p.Arg2891Gln
XM_006724474.2:c.8810G>A XP_006724537.1:p.Arg2937Gln
XM_006724475.2:c.8810G>A XP_006724538.1:p.Arg2937Gln
XM_011545467.1:c.8687G>A XP_011543769.1:p.Arg2896Gln
XM_011545468.1:c.8810G>A XP_011543770.1:p.Arg2937Gln
XM_006724469.3:c.8786G>A XP_006724532.1:p.Arg2929Gln
XM_006724470.3:c.8810G>A XP_006724533.1:p.Arg2937Gln
XM_006724474.3:c.8810G>A XP_006724537.1:p.Arg2937Gln
XM_011545468.2:c.8810G>A XP_011543770.1:p.Arg2937Gln
XM_017029328.1:c.8810G>A XP_016884817.1:p.Arg2937Gln
XM_017029331.1:c.2984G>A XP_016884820.1:p.Arg995Gln
NM_000109.4:c.8786G>A NP_000100.3:p.Arg2929Gln
NM_004006.3:c.8810G>A MANE Select NP_003997.2:p.Arg2937Gln
NM_004011.4:c.4787G>A NP_004002.3:p.Arg1596Gln
NM_004012.4:c.4778G>A NP_004003.2:p.Arg1593Gln
NM_004021.3:c.1430G>A NP_004012.2:p.Arg477Gln
NM_004023.3:c.1430G>A NP_004014.2:p.Arg477Gln
NM_004013.3:c.1430G>A NP_004004.2:p.Arg477Gln
NM_004014.3:c.623G>A NP_004005.2:p.Arg208Gln
NM_004020.4:c.1430G>A NP_004011.3:p.Arg477Gln
NM_004022.3:c.1430G>A NP_004013.2:p.Arg477Gln