Canonical Allele Identifier: CA16616507

Gene: DMD

Linked Data

• ClinVar Variation Id: 409944
• ClinVar RCV Id: RCV000461184 ; RCV001810955 ; RCV001165856 ; RCV002451118
• dbSNP Id: rs398123940
• gnomAD v3: X-32454819-T-G
• gnomAD v4: X-32454819-T-G
• MyVariant Identifiers: chrX:g.32472936T>G (hg19) ; chrX:g.32454819T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32454819T>G , CM000685.2:g.32454819T>G	GRCh38
NC_000023.10:g.32472936T>G , CM000685.1:g.32472936T>G	GRCh37
NC_000023.9:g.32382857T>G	NCBI36
NG_012232.1:g.889791A>C , LRG_199:g.889791A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682899.1:n.3653A>C
ENST00000357033.9:c.3446A>C MANE Select	ENSP00000354923.3:p.Lys1149Thr
ENST00000357033.8:c.3446A>C	ENSP00000354923.3:p.Lys1149Thr
ENST00000378677.6:c.3434A>C	ENSP00000367948.2:p.Lys1145Thr
ENST00000420596.5:c.94-89620A>C	ENSP00000399897.1:n.94-89620A>C
ENST00000448370.5:c.94-90109A>C	ENSP00000388559.1:n.94-90109A>C
ENST00000488902.5:n.336-237756A>C
ENST00000619831.4:c.3434A>C	ENSP00000479270.1:p.Lys1145Thr
ENST00000620040.4:c.3446A>C	ENSP00000478150.1:p.Lys1149Thr
NM_000109.3:c.3422A>C	NP_000100.2:p.Lys1141Thr
NM_004006.2:c.3446A>C , LRG_199t1:c.3446A>C	NP_003997.1:p.Lys1149Thr
NM_004009.3:c.3434A>C	NP_004000.1:p.Lys1145Thr
NM_004010.3:c.3077A>C	NP_004001.1:p.Lys1026Thr
XM_006724468.2:c.3446A>C	XP_006724531.1:p.Lys1149Thr
XM_006724469.2:c.3422A>C	XP_006724532.1:p.Lys1141Thr
XM_006724470.2:c.3446A>C	XP_006724533.1:p.Lys1149Thr
XM_006724471.2:c.3446A>C	XP_006724534.1:p.Lys1149Thr
XM_006724472.2:c.3317A>C	XP_006724535.1:p.Lys1106Thr
XM_006724473.2:c.3446A>C	XP_006724536.1:p.Lys1149Thr
XM_006724474.2:c.3446A>C	XP_006724537.1:p.Lys1149Thr
XM_006724475.2:c.3446A>C	XP_006724538.1:p.Lys1149Thr
XM_011545467.1:c.3446A>C	XP_011543769.1:p.Lys1149Thr
XM_011545468.1:c.3446A>C	XP_011543770.1:p.Lys1149Thr
XM_011545469.1:c.3446A>C	XP_011543771.1:p.Lys1149Thr
XM_006724469.3:c.3422A>C	XP_006724532.1:p.Lys1141Thr
XM_006724470.3:c.3446A>C	XP_006724533.1:p.Lys1149Thr
XM_006724474.3:c.3446A>C	XP_006724537.1:p.Lys1149Thr
XM_011545468.2:c.3446A>C	XP_011543770.1:p.Lys1149Thr
XM_017029328.1:c.3446A>C	XP_016884817.1:p.Lys1149Thr
XM_017029329.1:c.3446A>C	XP_016884818.1:p.Lys1149Thr
XM_017029330.2:c.3446A>C	XP_016884819.1:p.Lys1149Thr
NM_000109.4:c.3422A>C	NP_000100.3:p.Lys1141Thr
NM_004006.3:c.3446A>C MANE Select	NP_003997.2:p.Lys1149Thr