Canonical Allele Identifier: CA308388
Gene: DMD HGNC NCBI

Linked Data

ClinVar Variation Id: 201747
dbSNP Id: rs140106769
gnomAD v2: X-32482788-A-G
gnomAD v3: X-32464671-A-G
gnomAD v4: X-32464671-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.32464671A>G , CM000685.2:g.32464671A>G GRCh38
NC_000023.10:g.32482788A>G , CM000685.1:g.32482788A>G GRCh37
NC_000023.9:g.32392709A>G NCBI36
NG_012232.1:g.879939T>C , LRG_199:g.879939T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682899.1:n.3398T>C
ENST00000357033.9:c.3191T>C MANE Select ENSP00000354923.3:p.Met1064Thr
ENST00000357033.8:c.3191T>C ENSP00000354923.3:p.Met1064Thr
ENST00000378677.6:c.3179T>C ENSP00000367948.2:p.Met1060Thr
ENST00000420596.5:c.94-99472T>C ENSP00000399897.1:n.94-99472T>C
ENST00000448370.5:c.94-99961T>C ENSP00000388559.1:n.94-99961T>C
ENST00000488902.5:n.336-247608T>C
ENST00000619831.4:c.3179T>C ENSP00000479270.1:p.Met1060Thr
ENST00000620040.4:c.3191T>C ENSP00000478150.1:p.Met1064Thr
NM_000109.3:c.3167T>C NP_000100.2:p.Met1056Thr
NM_004006.2:c.3191T>C , LRG_199t1:c.3191T>C NP_003997.1:p.Met1064Thr
NM_004009.3:c.3179T>C NP_004000.1:p.Met1060Thr
NM_004010.3:c.2822T>C NP_004001.1:p.Met941Thr
XM_006724468.2:c.3191T>C XP_006724531.1:p.Met1064Thr
XM_006724469.2:c.3167T>C XP_006724532.1:p.Met1056Thr
XM_006724470.2:c.3191T>C XP_006724533.1:p.Met1064Thr
XM_006724471.2:c.3191T>C XP_006724534.1:p.Met1064Thr
XM_006724472.2:c.3062T>C XP_006724535.1:p.Met1021Thr
XM_006724473.2:c.3191T>C XP_006724536.1:p.Met1064Thr
XM_006724474.2:c.3191T>C XP_006724537.1:p.Met1064Thr
XM_006724475.2:c.3191T>C XP_006724538.1:p.Met1064Thr
XM_011545467.1:c.3191T>C XP_011543769.1:p.Met1064Thr
XM_011545468.1:c.3191T>C XP_011543770.1:p.Met1064Thr
XM_011545469.1:c.3191T>C XP_011543771.1:p.Met1064Thr
XM_006724469.3:c.3167T>C XP_006724532.1:p.Met1056Thr
XM_006724470.3:c.3191T>C XP_006724533.1:p.Met1064Thr
XM_006724474.3:c.3191T>C XP_006724537.1:p.Met1064Thr
XM_011545468.2:c.3191T>C XP_011543770.1:p.Met1064Thr
XM_017029328.1:c.3191T>C XP_016884817.1:p.Met1064Thr
XM_017029329.1:c.3191T>C XP_016884818.1:p.Met1064Thr
XM_017029330.2:c.3191T>C XP_016884819.1:p.Met1064Thr
NM_000109.4:c.3167T>C NP_000100.3:p.Met1056Thr
NM_004006.3:c.3191T>C MANE Select NP_003997.2:p.Met1064Thr