Canonical Allele Identifier: CA412666423
Gene: DMD HGNC NCBI

Linked Data

ClinVar Variation Id: 1962897
ClinVar RCV Id: RCV002710756
dbSNP Id: rs753426129
gnomAD v2: X-32305781-A-G
gnomAD v4: X-32287664-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.32287664A>G , CM000685.2:g.32287664A>G GRCh38
NC_000023.10:g.32305781A>G , CM000685.1:g.32305781A>G GRCh37
NC_000023.9:g.32215702A>G NCBI36
NG_012232.1:g.1056946T>C , LRG_199:g.1056946T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000358062.7:c.1001T>C ENSP00000350765.3:p.Ile334Thr
ENST00000357033.9:c.6155T>C MANE Select ENSP00000354923.3:p.Ile2052Thr
ENST00000619831.5:c.2123T>C ENSP00000479270.2:p.Ile708Thr
ENST00000357033.8:c.6155T>C ENSP00000354923.3:p.Ile2052Thr
ENST00000378677.6:c.6143T>C ENSP00000367948.2:p.Ile2048Thr
ENST00000488902.5:n.336-70601T>C
ENST00000619831.4:c.6143T>C ENSP00000479270.1:p.Ile2048Thr
ENST00000620040.4:c.6155T>C ENSP00000478150.1:p.Ile2052Thr
NM_000109.3:c.6131T>C NP_000100.2:p.Ile2044Thr
NM_004006.2:c.6155T>C , LRG_199t1:c.6155T>C NP_003997.1:p.Ile2052Thr
NM_004009.3:c.6143T>C NP_004000.1:p.Ile2048Thr
NM_004010.3:c.5786T>C NP_004001.1:p.Ile1929Thr
NM_004011.3:c.2132T>C NP_004002.2:p.Ile711Thr
NM_004012.3:c.2123T>C NP_004003.1:p.Ile708Thr
XM_006724468.2:c.6155T>C XP_006724531.1:p.Ile2052Thr
XM_006724469.2:c.6131T>C XP_006724532.1:p.Ile2044Thr
XM_006724470.2:c.6155T>C XP_006724533.1:p.Ile2052Thr
XM_006724471.2:c.6155T>C XP_006724534.1:p.Ile2052Thr
XM_006724472.2:c.6026T>C XP_006724535.1:p.Ile2009Thr
XM_006724473.2:c.6017T>C XP_006724536.1:p.Ile2006Thr
XM_006724474.2:c.6155T>C XP_006724537.1:p.Ile2052Thr
XM_006724475.2:c.6155T>C XP_006724538.1:p.Ile2052Thr
XM_011545467.1:c.6032T>C XP_011543769.1:p.Ile2011Thr
XM_011545468.1:c.6155T>C XP_011543770.1:p.Ile2052Thr
XM_006724469.3:c.6131T>C XP_006724532.1:p.Ile2044Thr
XM_006724470.3:c.6155T>C XP_006724533.1:p.Ile2052Thr
XM_006724474.3:c.6155T>C XP_006724537.1:p.Ile2052Thr
XM_011545468.2:c.6155T>C XP_011543770.1:p.Ile2052Thr
XM_017029328.1:c.6155T>C XP_016884817.1:p.Ile2052Thr
XM_017029329.1:c.6155T>C XP_016884818.1:p.Ile2052Thr
XM_017029330.2:c.6155T>C XP_016884819.1:p.Ile2052Thr
XM_017029331.1:c.329T>C XP_016884820.1:p.Ile110Thr
NM_000109.4:c.6131T>C NP_000100.3:p.Ile2044Thr
NM_004006.3:c.6155T>C MANE Select NP_003997.2:p.Ile2052Thr
NM_004011.4:c.2132T>C NP_004002.3:p.Ile711Thr
NM_004012.4:c.2123T>C NP_004003.2:p.Ile708Thr