Canonical Allele Identifier: CA10379172
Community Standard Title: NM_004006.3(DMD):c.3914T>C (p.Val1305Ala)
Gene: DMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.32441187A>G , CM000685.2:g.32441187A>G GRCh38
NC_000023.10:g.32459304A>G , CM000685.1:g.32459304A>G GRCh37
NC_000023.9:g.32369225A>G NCBI36
NG_012232.1:g.903423T>C , LRG_199:g.903423T>C

Transcript Alleles

HGVS Amino-acid Change
NM_004006.3:c.3914T>C MANE Select NP_003997.2:p.Val1305Ala
ENST00000357033.9:c.3914T>C MANE Select ENSP00000354923.3:p.Val1305Ala
NM_000109.3:c.3890T>C NP_000100.2:p.Val1297Ala
NM_000109.4:c.3890T>C NP_000100.3:p.Val1297Ala
NM_004006.2:c.3914T>C , LRG_199t1:c.3914T>C NP_003997.1:p.Val1305Ala
NM_004009.3:c.3902T>C NP_004000.1:p.Val1301Ala
NM_004010.3:c.3545T>C NP_004001.1:p.Val1182Ala
ENST00000357033.8:c.3914T>C ENSP00000354923.3:p.Val1305Ala
ENST00000378677.6:c.3902T>C ENSP00000367948.2:p.Val1301Ala
ENST00000420596.5:c.94-75988T>C ENSP00000399897.1:n.94-75988T>C
ENST00000448370.5:c.94-76477T>C ENSP00000388559.1:n.94-76477T>C
ENST00000488902.5:n.336-224124T>C
ENST00000619831.4:c.3902T>C ENSP00000479270.1:p.Val1301Ala
ENST00000620040.4:c.3914T>C ENSP00000478150.1:p.Val1305Ala
XM_006724468.2:c.3914T>C XP_006724531.1:p.Val1305Ala
XM_006724469.2:c.3890T>C XP_006724532.1:p.Val1297Ala
XM_006724469.3:c.3890T>C XP_006724532.1:p.Val1297Ala
XM_006724470.2:c.3914T>C XP_006724533.1:p.Val1305Ala
XM_006724470.3:c.3914T>C XP_006724533.1:p.Val1305Ala
XM_006724471.2:c.3914T>C XP_006724534.1:p.Val1305Ala
XM_006724472.2:c.3785T>C XP_006724535.1:p.Val1262Ala
XM_006724473.2:c.3914T>C XP_006724536.1:p.Val1305Ala
XM_006724474.2:c.3914T>C XP_006724537.1:p.Val1305Ala
XM_006724474.3:c.3914T>C XP_006724537.1:p.Val1305Ala
XM_006724475.2:c.3914T>C XP_006724538.1:p.Val1305Ala
XM_011545467.1:c.3914T>C XP_011543769.1:p.Val1305Ala
XM_011545468.1:c.3914T>C XP_011543770.1:p.Val1305Ala
XM_011545468.2:c.3914T>C XP_011543770.1:p.Val1305Ala
XM_011545469.1:c.3914T>C XP_011543771.1:p.Val1305Ala
XM_017029328.1:c.3914T>C XP_016884817.1:p.Val1305Ala
XM_017029329.1:c.3914T>C XP_016884818.1:p.Val1305Ala
XM_017029330.2:c.3914T>C XP_016884819.1:p.Val1305Ala