Canonical Allele Identifier: CA412662812

Gene: DMD

Linked Data

• gnomAD v4: X-32386463-G-T
• MyVariant Identifiers: chrX:g.32404580G>T (hg19) ; chrX:g.32386463G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32386463G>T , CM000685.2:g.32386463G>T	GRCh38
NC_000023.10:g.32404580G>T , CM000685.1:g.32404580G>T	GRCh37
NC_000023.9:g.32314501G>T	NCBI36
NG_012232.1:g.958147C>A , LRG_199:g.958147C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000357033.9:c.4521C>A MANE Select	ENSP00000354923.3:p.Asn1507Lys
ENST00000619831.5:c.489C>A	ENSP00000479270.2:p.Asn163Lys
ENST00000357033.8:c.4521C>A	ENSP00000354923.3:p.Asn1507Lys
ENST00000378677.6:c.4509C>A	ENSP00000367948.2:p.Asn1503Lys
ENST00000420596.5:c.94-21264C>A	ENSP00000399897.1:n.94-21264C>A
ENST00000448370.5:c.94-21753C>A	ENSP00000388559.1:n.94-21753C>A
ENST00000488902.5:n.336-169400C>A
ENST00000619831.4:c.4509C>A	ENSP00000479270.1:p.Asn1503Lys
ENST00000620040.4:c.4521C>A	ENSP00000478150.1:p.Asn1507Lys
NM_000109.3:c.4497C>A	NP_000100.2:p.Asn1499Lys
NM_004006.2:c.4521C>A , LRG_199t1:c.4521C>A	NP_003997.1:p.Asn1507Lys
NM_004009.3:c.4509C>A	NP_004000.1:p.Asn1503Lys
NM_004010.3:c.4152C>A	NP_004001.1:p.Asn1384Lys
NM_004011.3:c.498C>A	NP_004002.2:p.Asn166Lys
NM_004012.3:c.489C>A	NP_004003.1:p.Asn163Lys
XM_006724468.2:c.4521C>A	XP_006724531.1:p.Asn1507Lys
XM_006724469.2:c.4497C>A	XP_006724532.1:p.Asn1499Lys
XM_006724470.2:c.4521C>A	XP_006724533.1:p.Asn1507Lys
XM_006724471.2:c.4521C>A	XP_006724534.1:p.Asn1507Lys
XM_006724472.2:c.4392C>A	XP_006724535.1:p.Asn1464Lys
XM_006724473.2:c.4521C>A	XP_006724536.1:p.Asn1507Lys
XM_006724474.2:c.4521C>A	XP_006724537.1:p.Asn1507Lys
XM_006724475.2:c.4521C>A	XP_006724538.1:p.Asn1507Lys
XM_011545467.1:c.4521C>A	XP_011543769.1:p.Asn1507Lys
XM_011545468.1:c.4521C>A	XP_011543770.1:p.Asn1507Lys
XM_011545469.1:c.4521C>A	XP_011543771.1:p.Asn1507Lys
XM_006724469.3:c.4497C>A	XP_006724532.1:p.Asn1499Lys
XM_006724470.3:c.4521C>A	XP_006724533.1:p.Asn1507Lys
XM_006724474.3:c.4521C>A	XP_006724537.1:p.Asn1507Lys
XM_011545468.2:c.4521C>A	XP_011543770.1:p.Asn1507Lys
XM_017029328.1:c.4521C>A	XP_016884817.1:p.Asn1507Lys
XM_017029329.1:c.4521C>A	XP_016884818.1:p.Asn1507Lys
XM_017029330.2:c.4521C>A	XP_016884819.1:p.Asn1507Lys
NM_000109.4:c.4497C>A	NP_000100.3:p.Asn1499Lys
NM_004006.3:c.4521C>A MANE Select	NP_003997.2:p.Asn1507Lys
NM_004011.4:c.498C>A	NP_004002.3:p.Asn166Lys
NM_004012.4:c.489C>A	NP_004003.2:p.Asn163Lys