Canonical Allele Identifier: CA515858222
Gene: DMD HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.31462646A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.31444529A>G , CM000685.2:g.31444529A>G GRCh38
NC_000023.10:g.31462646A>G , CM000685.1:g.31462646A>G GRCh37
NC_000023.9:g.31372567A>G NCBI36
NG_012232.1:g.1900081T>C , LRG_199:g.1900081T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000358062.7:c.3882T>C ENSP00000350765.3:p.Tyr1294=
ENST00000682238.1:c.1656T>C ENSP00000508124.1:p.Tyr552=
ENST00000683450.1:n.2501T>C
ENST00000683957.1:n.2528T>C
ENST00000684130.1:c.1656T>C ENSP00000508037.1:p.Tyr552=
ENST00000343523.7:c.891T>C ENSP00000340057.4:p.Tyr297=
ENST00000357033.9:c.9036T>C MANE Select ENSP00000354923.3:p.Tyr3012=
ENST00000619831.5:c.5004T>C ENSP00000479270.2:p.Tyr1668=
ENST00000620040.5:c.1656T>C ENSP00000478150.2:p.Tyr552=
ENST00000680961.1:c.1656T>C ENSP00000506386.1:p.Tyr552=
ENST00000681646.1:n.2697T>C
ENST00000343523.6:c.849T>C ENSP00000340057.3:p.Tyr283=
ENST00000357033.8:c.9036T>C ENSP00000354923.3:p.Tyr3012=
ENST00000358062.6:c.2124T>C ENSP00000350765.2:p.Tyr708=
ENST00000359836.5:c.1656T>C ENSP00000352894.1:p.Tyr552=
ENST00000378677.6:c.9024T>C ENSP00000367948.2:p.Tyr3008=
ENST00000378707.7:c.1656T>C ENSP00000367979.3:p.Tyr552=
ENST00000474231.5:c.1656T>C ENSP00000417123.1:p.Tyr552=
ENST00000541735.5:c.1656T>C ENSP00000444119.1:p.Tyr552=
ENST00000619831.4:c.9021T>C ENSP00000479270.1:p.Tyr3007=
ENST00000620040.4:c.9033T>C ENSP00000478150.1:p.Tyr3011=
NM_000109.3:c.9012T>C NP_000100.2:p.Tyr3004=
NM_004006.2:c.9036T>C , LRG_199t1:c.9036T>C NP_003997.1:p.Tyr3012=
NM_004009.3:c.9024T>C NP_004000.1:p.Tyr3008=
NM_004010.3:c.8667T>C NP_004001.1:p.Tyr2889=
NM_004011.3:c.5013T>C NP_004002.2:p.Tyr1671=
NM_004012.3:c.5004T>C NP_004003.1:p.Tyr1668=
NM_004013.2:c.1656T>C NP_004004.1:p.Tyr552=
NM_004014.2:c.849T>C NP_004005.1:p.Tyr283=
NM_004020.3:c.1656T>C NP_004011.2:p.Tyr552=
NM_004021.2:c.1656T>C NP_004012.1:p.Tyr552=
NM_004022.2:c.1656T>C NP_004013.1:p.Tyr552=
NM_004023.2:c.1656T>C NP_004014.1:p.Tyr552=
XM_006724468.2:c.9036T>C XP_006724531.1:p.Tyr3012=
XM_006724469.2:c.9012T>C XP_006724532.1:p.Tyr3004=
XM_006724470.2:c.9036T>C XP_006724533.1:p.Tyr3012=
XM_006724471.2:c.9036T>C XP_006724534.1:p.Tyr3012=
XM_006724472.2:c.8907T>C XP_006724535.1:p.Tyr2969=
XM_006724473.2:c.8898T>C XP_006724536.1:p.Tyr2966=
XM_006724474.2:c.9036T>C XP_006724537.1:p.Tyr3012=
XM_006724475.2:c.9036T>C XP_006724538.1:p.Tyr3012=
XM_011545467.1:c.8913T>C XP_011543769.1:p.Tyr2971=
XM_011545468.1:c.9036T>C XP_011543770.1:p.Tyr3012=
XM_006724469.3:c.9012T>C XP_006724532.1:p.Tyr3004=
XM_006724470.3:c.9036T>C XP_006724533.1:p.Tyr3012=
XM_006724474.3:c.9036T>C XP_006724537.1:p.Tyr3012=
XM_011545468.2:c.9036T>C XP_011543770.1:p.Tyr3012=
XM_017029328.1:c.9036T>C XP_016884817.1:p.Tyr3012=
XM_017029331.1:c.3210T>C XP_016884820.1:p.Tyr1070=
NM_000109.4:c.9012T>C NP_000100.3:p.Tyr3004=
NM_004006.3:c.9036T>C MANE Select NP_003997.2:p.Tyr3012=
NM_004011.4:c.5013T>C NP_004002.3:p.Tyr1671=
NM_004012.4:c.5004T>C NP_004003.2:p.Tyr1668=
NM_004021.3:c.1656T>C NP_004012.2:p.Tyr552=
NM_004023.3:c.1656T>C NP_004014.2:p.Tyr552=
NM_004013.3:c.1656T>C NP_004004.2:p.Tyr552=
NM_004014.3:c.849T>C NP_004005.2:p.Tyr283=
NM_004020.4:c.1656T>C NP_004011.3:p.Tyr552=
NM_004022.3:c.1656T>C NP_004013.2:p.Tyr552=