Canonical Allele Identifier: CA412656612

Gene: DMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31679404C>T , CM000685.2:g.31679404C>T	GRCh38
NC_000023.10:g.31697521C>T , CM000685.1:g.31697521C>T	GRCh37
NC_000023.9:g.31607442C>T	NCBI36
NG_012232.1:g.1665206G>A , LRG_199:g.1665206G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004006.3:c.7843G>A MANE Select	NP_003997.2:p.Ala2615Thr
ENST00000357033.9:c.7843G>A MANE Select	ENSP00000354923.3:p.Ala2615Thr
NM_000109.3:c.7819G>A	NP_000100.2:p.Ala2607Thr
NM_000109.4:c.7819G>A	NP_000100.3:p.Ala2607Thr
NM_004006.2:c.7843G>A , LRG_199t1:c.7843G>A	NP_003997.1:p.Ala2615Thr
NM_004009.3:c.7831G>A	NP_004000.1:p.Ala2611Thr
NM_004010.3:c.7474G>A	NP_004001.1:p.Ala2492Thr
NM_004011.3:c.3820G>A	NP_004002.2:p.Ala1274Thr
NM_004011.4:c.3820G>A	NP_004002.3:p.Ala1274Thr
NM_004012.3:c.3811G>A	NP_004003.1:p.Ala1271Thr
NM_004012.4:c.3811G>A	NP_004003.2:p.Ala1271Thr
NM_004013.2:c.463G>A	NP_004004.1:p.Ala155Thr
NM_004013.3:c.463G>A	NP_004004.2:p.Ala155Thr
NM_004020.3:c.463G>A	NP_004011.2:p.Ala155Thr
NM_004020.4:c.463G>A	NP_004011.3:p.Ala155Thr
NM_004021.2:c.463G>A	NP_004012.1:p.Ala155Thr
NM_004021.3:c.463G>A	NP_004012.2:p.Ala155Thr
NM_004022.2:c.463G>A	NP_004013.1:p.Ala155Thr
NM_004022.3:c.463G>A	NP_004013.2:p.Ala155Thr
NM_004023.2:c.463G>A	NP_004014.1:p.Ala155Thr
NM_004023.3:c.463G>A	NP_004014.2:p.Ala155Thr
ENST00000357033.8:c.7843G>A	ENSP00000354923.3:p.Ala2615Thr
ENST00000358062.6:c.931G>A	ENSP00000350765.2:p.Ala311Thr
ENST00000358062.7:c.2689G>A	ENSP00000350765.3:p.Ala897Thr
ENST00000359836.5:c.463G>A	ENSP00000352894.1:p.Ala155Thr
ENST00000378677.6:c.7831G>A	ENSP00000367948.2:p.Ala2611Thr
ENST00000378707.7:c.463G>A	ENSP00000367979.3:p.Ala155Thr
ENST00000474231.5:c.463G>A	ENSP00000417123.1:p.Ala155Thr
ENST00000541735.5:c.463G>A	ENSP00000444119.1:p.Ala155Thr
ENST00000619831.4:c.7828G>A	ENSP00000479270.1:p.Ala2610Thr
ENST00000619831.5:c.3811G>A	ENSP00000479270.2:p.Ala1271Thr
ENST00000620040.4:c.7840G>A	ENSP00000478150.1:p.Ala2614Thr
ENST00000620040.5:c.463G>A	ENSP00000478150.2:p.Ala155Thr
ENST00000680961.1:c.463G>A	ENSP00000506386.1:p.Ala155Thr
ENST00000681646.1:n.1504G>A
ENST00000681839.1:c.832G>A	ENSP00000505228.1:p.Ala278Thr
ENST00000682238.1:c.463G>A	ENSP00000508124.1:p.Ala155Thr
ENST00000683117.1:n.1504G>A
ENST00000683450.1:n.1308G>A
ENST00000683851.1:n.1504G>A
ENST00000683957.1:n.1335G>A
ENST00000684130.1:c.463G>A	ENSP00000508037.1:p.Ala155Thr
XM_006724468.2:c.7843G>A	XP_006724531.1:p.Ala2615Thr
XM_006724469.2:c.7819G>A	XP_006724532.1:p.Ala2607Thr
XM_006724469.3:c.7819G>A	XP_006724532.1:p.Ala2607Thr
XM_006724470.2:c.7843G>A	XP_006724533.1:p.Ala2615Thr
XM_006724470.3:c.7843G>A	XP_006724533.1:p.Ala2615Thr
XM_006724471.2:c.7843G>A	XP_006724534.1:p.Ala2615Thr
XM_006724472.2:c.7714G>A	XP_006724535.1:p.Ala2572Thr
XM_006724473.2:c.7705G>A	XP_006724536.1:p.Ala2569Thr
XM_006724474.2:c.7843G>A	XP_006724537.1:p.Ala2615Thr
XM_006724474.3:c.7843G>A	XP_006724537.1:p.Ala2615Thr
XM_006724475.2:c.7843G>A	XP_006724538.1:p.Ala2615Thr
XM_011545467.1:c.7720G>A	XP_011543769.1:p.Ala2574Thr
XM_011545468.1:c.7843G>A	XP_011543770.1:p.Ala2615Thr
XM_011545468.2:c.7843G>A	XP_011543770.1:p.Ala2615Thr
XM_017029328.1:c.7843G>A	XP_016884817.1:p.Ala2615Thr
XM_017029331.1:c.2017G>A	XP_016884820.1:p.Ala673Thr