Canonical Allele Identifier: CA308422
Community Standard Title: NM_004006.3(DMD):c.2623-1G>T
Gene: DMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.32485100C>A , CM000685.2:g.32485100C>A GRCh38
NC_000023.10:g.32503217C>A , CM000685.1:g.32503217C>A GRCh37
NC_000023.9:g.32413138C>A NCBI36
NG_012232.1:g.859510G>T , LRG_199:g.859510G>T

Transcript Alleles

HGVS Amino-acid Change
NM_004006.3:c.2623-1G>T MANE Select NP_003997.2:n.2623-1G>T
ENST00000357033.9:c.2623-1G>T MANE Select ENSP00000354923.3:n.2623-1G>T
NM_000109.3:c.2599-1G>T NP_000100.2:n.2599-1G>T
NM_000109.4:c.2599-1G>T NP_000100.3:n.2599-1G>T
NM_004006.2:c.2623-1G>T , LRG_199t1:c.2623-1G>T NP_003997.1:n.2623-1G>T
NM_004009.3:c.2611-1G>T NP_004000.1:n.2611-1G>T
NM_004010.3:c.2254-1G>T NP_004001.1:n.2254-1G>T
ENST00000357033.8:c.2623-1G>T ENSP00000354923.3:n.2623-1G>T
ENST00000378677.6:c.2611-1G>T ENSP00000367948.2:n.2611-1G>T
ENST00000420596.5:c.94-119901G>T ENSP00000399897.1:n.94-119901G>T
ENST00000448370.5:c.94-120390G>T ENSP00000388559.1:n.94-120390G>T
ENST00000488902.5:n.336-268037G>T
ENST00000619831.4:c.2611-1G>T ENSP00000479270.1:n.2611-1G>T
ENST00000620040.4:c.2623-1G>T ENSP00000478150.1:n.2623-1G>T
ENST00000682899.1:n.2830-1G>T
ENST00000683985.1:n.2830-1G>T
XM_006724468.2:c.2623-1G>T XP_006724531.1:n.2623-1G>T
XM_006724469.2:c.2599-1G>T XP_006724532.1:n.2599-1G>T
XM_006724469.3:c.2599-1G>T XP_006724532.1:n.2599-1G>T
XM_006724470.2:c.2623-1G>T XP_006724533.1:n.2623-1G>T
XM_006724470.3:c.2623-1G>T XP_006724533.1:n.2623-1G>T
XM_006724471.2:c.2623-1G>T XP_006724534.1:n.2623-1G>T
XM_006724472.2:c.2494-1G>T XP_006724535.1:n.2494-1G>T
XM_006724473.2:c.2623-1G>T XP_006724536.1:n.2623-1G>T
XM_006724474.2:c.2623-1G>T XP_006724537.1:n.2623-1G>T
XM_006724474.3:c.2623-1G>T XP_006724537.1:n.2623-1G>T
XM_006724475.2:c.2623-1G>T XP_006724538.1:n.2623-1G>T
XM_011545467.1:c.2623-1G>T XP_011543769.1:n.2623-1G>T
XM_011545468.1:c.2623-1G>T XP_011543770.1:n.2623-1G>T
XM_011545468.2:c.2623-1G>T XP_011543770.1:n.2623-1G>T
XM_011545469.1:c.2623-1G>T XP_011543771.1:n.2623-1G>T
XM_017029328.1:c.2623-1G>T XP_016884817.1:n.2623-1G>T
XM_017029329.1:c.2623-1G>T XP_016884818.1:n.2623-1G>T
XM_017029330.2:c.2623-1G>T XP_016884819.1:n.2623-1G>T