Canonical Allele Identifier: CA412663213
Gene: DMD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.32454748T>C , CM000685.2:g.32454748T>C GRCh38
NC_000023.10:g.32472865T>C , CM000685.1:g.32472865T>C GRCh37
NC_000023.9:g.32382786T>C NCBI36
NG_012232.1:g.889862A>G , LRG_199:g.889862A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682899.1:n.3724A>G
ENST00000357033.9:c.3517A>G MANE Select ENSP00000354923.3:p.Met1173Val
ENST00000357033.8:c.3517A>G ENSP00000354923.3:p.Met1173Val
ENST00000378677.6:c.3505A>G ENSP00000367948.2:p.Met1169Val
ENST00000420596.5:c.94-89549A>G ENSP00000399897.1:n.94-89549A>G
ENST00000448370.5:c.94-90038A>G ENSP00000388559.1:n.94-90038A>G
ENST00000488902.5:n.336-237685A>G
ENST00000619831.4:c.3505A>G ENSP00000479270.1:p.Met1169Val
ENST00000620040.4:c.3517A>G ENSP00000478150.1:p.Met1173Val
NM_000109.3:c.3493A>G NP_000100.2:p.Met1165Val
NM_004006.2:c.3517A>G , LRG_199t1:c.3517A>G NP_003997.1:p.Met1173Val
NM_004009.3:c.3505A>G NP_004000.1:p.Met1169Val
NM_004010.3:c.3148A>G NP_004001.1:p.Met1050Val
XM_006724468.2:c.3517A>G XP_006724531.1:p.Met1173Val
XM_006724469.2:c.3493A>G XP_006724532.1:p.Met1165Val
XM_006724470.2:c.3517A>G XP_006724533.1:p.Met1173Val
XM_006724471.2:c.3517A>G XP_006724534.1:p.Met1173Val
XM_006724472.2:c.3388A>G XP_006724535.1:p.Met1130Val
XM_006724473.2:c.3517A>G XP_006724536.1:p.Met1173Val
XM_006724474.2:c.3517A>G XP_006724537.1:p.Met1173Val
XM_006724475.2:c.3517A>G XP_006724538.1:p.Met1173Val
XM_011545467.1:c.3517A>G XP_011543769.1:p.Met1173Val
XM_011545468.1:c.3517A>G XP_011543770.1:p.Met1173Val
XM_011545469.1:c.3517A>G XP_011543771.1:p.Met1173Val
XM_006724469.3:c.3493A>G XP_006724532.1:p.Met1165Val
XM_006724470.3:c.3517A>G XP_006724533.1:p.Met1173Val
XM_006724474.3:c.3517A>G XP_006724537.1:p.Met1173Val
XM_011545468.2:c.3517A>G XP_011543770.1:p.Met1173Val
XM_017029328.1:c.3517A>G XP_016884817.1:p.Met1173Val
XM_017029329.1:c.3517A>G XP_016884818.1:p.Met1173Val
XM_017029330.2:c.3517A>G XP_016884819.1:p.Met1173Val
NM_000109.4:c.3493A>G NP_000100.3:p.Met1165Val
NM_004006.3:c.3517A>G MANE Select NP_003997.2:p.Met1173Val