Canonical Allele Identifier: CA412675014

Gene: DMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32849822T>G , CM000685.2:g.32849822T>G	GRCh38
NC_000023.10:g.32867939T>G , CM000685.1:g.32867939T>G	GRCh37
NC_000023.9:g.32777860T>G	NCBI36
NG_012232.1:g.494788A>C , LRG_199:g.494788A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004006.3:c.94-2A>C MANE Select	NP_003997.2:n.94-2A>C
ENST00000357033.9:c.94-2A>C MANE Select	ENSP00000354923.3:n.94-2A>C
NM_000109.3:c.70-2A>C	NP_000100.2:n.70-2A>C
NM_000109.4:c.70-2A>C	NP_000100.3:n.70-2A>C
NM_004006.2:c.94-2A>C , LRG_199t1:c.94-2A>C	NP_003997.1:n.94-2A>C
NM_004009.3:c.82-2A>C	NP_004000.1:n.82-2A>C
NM_004010.3:c.-276-2A>C	NP_004001.1:n.-276-2A>C
ENST00000288447.8:c.70-2A>C	ENSP00000288447.4:n.70-2A>C
ENST00000288447.9:c.70-2A>C	ENSP00000288447.4:n.70-2A>C
ENST00000357033.8:c.94-2A>C	ENSP00000354923.3:n.94-2A>C
ENST00000378677.6:c.82-2A>C	ENSP00000367948.2:n.82-2A>C
ENST00000420596.5:c.93+170317A>C	ENSP00000399897.1:n.93+170317A>C
ENST00000448370.5:c.93+170317A>C	ENSP00000388559.1:n.93+170317A>C
ENST00000472681.1:n.279-2A>C
ENST00000488902.5:n.335+170317A>C
ENST00000619831.4:c.82-2A>C	ENSP00000479270.1:n.82-2A>C
ENST00000620040.4:c.94-2A>C	ENSP00000478150.1:n.94-2A>C
ENST00000682071.1:c.-276-2A>C	ENSP00000508133.1:n.-276-2A>C
ENST00000682437.1:n.418-2A>C
ENST00000682584.1:n.418-2A>C
ENST00000682870.1:n.279-2A>C
ENST00000682899.1:n.301-2A>C
ENST00000682924.1:c.94-2A>C	ENSP00000508187.1:n.94-2A>C
ENST00000683309.1:n.278-2A>C
ENST00000683658.1:n.439-2A>C
ENST00000683985.1:n.301-2A>C
ENST00000684056.1:n.278-2A>C
ENST00000684165.1:n.301-2A>C
ENST00000684237.1:c.94-2A>C	ENSP00000507277.1:n.94-2A>C
ENST00000684292.1:n.301-2A>C
ENST00000684357.1:n.278-2A>C
ENST00000684660.1:n.279-2A>C
XM_006724468.2:c.94-2A>C	XP_006724531.1:n.94-2A>C
XM_006724469.2:c.70-2A>C	XP_006724532.1:n.70-2A>C
XM_006724469.3:c.70-2A>C	XP_006724532.1:n.70-2A>C
XM_006724470.2:c.94-2A>C	XP_006724533.1:n.94-2A>C
XM_006724470.3:c.94-2A>C	XP_006724533.1:n.94-2A>C
XM_006724471.2:c.94-2A>C	XP_006724534.1:n.94-2A>C
XM_006724472.2:c.94-2A>C	XP_006724535.1:n.94-2A>C
XM_006724473.2:c.94-2A>C	XP_006724536.1:n.94-2A>C
XM_006724474.2:c.94-2A>C	XP_006724537.1:n.94-2A>C
XM_006724474.3:c.94-2A>C	XP_006724537.1:n.94-2A>C
XM_006724475.2:c.94-2A>C	XP_006724538.1:n.94-2A>C
XM_011545467.1:c.94-2A>C	XP_011543769.1:n.94-2A>C
XM_011545468.1:c.94-2A>C	XP_011543770.1:n.94-2A>C
XM_011545468.2:c.94-2A>C	XP_011543770.1:n.94-2A>C
XM_011545469.1:c.94-2A>C	XP_011543771.1:n.94-2A>C
XM_017029328.1:c.94-2A>C	XP_016884817.1:n.94-2A>C
XM_017029329.1:c.94-2A>C	XP_016884818.1:n.94-2A>C
XM_017029330.2:c.94-2A>C	XP_016884819.1:n.94-2A>C