Canonical Allele Identifier: CA275366

Gene: DMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31323606G>C , CM000685.2:g.31323606G>C	GRCh38
NC_000023.10:g.31341723G>C , CM000685.1:g.31341723G>C	GRCh37
NC_000023.9:g.31251644G>C	NCBI36
NG_012232.1:g.2021004C>G , LRG_199:g.2021004C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004006.3:c.9216C>G MANE Select	NP_003997.2:p.Tyr3072Ter
ENST00000357033.9:c.9216C>G MANE Select	ENSP00000354923.3:p.Tyr3072Ter
NM_000109.3:c.9192C>G	NP_000100.2:p.Tyr3064Ter
NM_000109.4:c.9192C>G	NP_000100.3:p.Tyr3064Ter
NM_004006.2:c.9216C>G , LRG_199t1:c.9216C>G	NP_003997.1:p.Tyr3072Ter
NM_004009.3:c.9204C>G	NP_004000.1:p.Tyr3068Ter
NM_004010.3:c.8847C>G	NP_004001.1:p.Tyr2949Ter
NM_004011.3:c.5193C>G	NP_004002.2:p.Tyr1731Ter
NM_004011.4:c.5193C>G	NP_004002.3:p.Tyr1731Ter
NM_004012.3:c.5184C>G	NP_004003.1:p.Tyr1728Ter
NM_004012.4:c.5184C>G	NP_004003.2:p.Tyr1728Ter
NM_004013.2:c.1836C>G	NP_004004.1:p.Tyr612Ter
NM_004013.3:c.1836C>G	NP_004004.2:p.Tyr612Ter
NM_004014.2:c.1029C>G	NP_004005.1:p.Tyr343Ter
NM_004014.3:c.1029C>G	NP_004005.2:p.Tyr343Ter
NM_004020.3:c.1836C>G	NP_004011.2:p.Tyr612Ter
NM_004020.4:c.1836C>G	NP_004011.3:p.Tyr612Ter
NM_004021.2:c.1836C>G	NP_004012.1:p.Tyr612Ter
NM_004021.3:c.1836C>G	NP_004012.2:p.Tyr612Ter
NM_004022.2:c.1836C>G	NP_004013.1:p.Tyr612Ter
NM_004022.3:c.1836C>G	NP_004013.2:p.Tyr612Ter
NM_004023.2:c.1836C>G	NP_004014.1:p.Tyr612Ter
NM_004023.3:c.1836C>G	NP_004014.2:p.Tyr612Ter
ENST00000343523.6:c.1029C>G	ENSP00000340057.3:p.Tyr343Ter
ENST00000343523.7:c.1071C>G	ENSP00000340057.4:p.Tyr357Ter
ENST00000357033.8:c.9216C>G	ENSP00000354923.3:p.Tyr3072Ter
ENST00000358062.6:c.2304C>G	ENSP00000350765.2:p.Tyr768Ter
ENST00000358062.7:c.4062C>G	ENSP00000350765.3:p.Tyr1354Ter
ENST00000359836.5:c.1836C>G	ENSP00000352894.1:p.Tyr612Ter
ENST00000378677.6:c.9204C>G	ENSP00000367948.2:p.Tyr3068Ter
ENST00000378707.7:c.1836C>G	ENSP00000367979.3:p.Tyr612Ter
ENST00000469142.1:n.235C>G
ENST00000474231.5:c.1836C>G	ENSP00000417123.1:p.Tyr612Ter
ENST00000541735.5:c.1836C>G	ENSP00000444119.1:p.Tyr612Ter
ENST00000619831.4:c.9201C>G	ENSP00000479270.1:p.Tyr3067Ter
ENST00000619831.5:c.5184C>G	ENSP00000479270.2:p.Tyr1728Ter
ENST00000620040.4:c.9213C>G	ENSP00000478150.1:p.Tyr3071Ter
ENST00000620040.5:c.1836C>G	ENSP00000478150.2:p.Tyr612Ter
ENST00000634315.1:n.25C>G
ENST00000680961.1:c.1836C>G	ENSP00000506386.1:p.Tyr612Ter
ENST00000681646.1:n.2877C>G
ENST00000682238.1:c.1836C>G	ENSP00000508124.1:p.Tyr612Ter
ENST00000683675.1:n.315C>G
ENST00000683957.1:n.2708C>G
ENST00000684130.1:c.1836C>G	ENSP00000508037.1:p.Tyr612Ter
XM_006724468.2:c.9216C>G	XP_006724531.1:p.Tyr3072Ter
XM_006724469.2:c.9192C>G	XP_006724532.1:p.Tyr3064Ter
XM_006724469.3:c.9192C>G	XP_006724532.1:p.Tyr3064Ter
XM_006724470.2:c.9216C>G	XP_006724533.1:p.Tyr3072Ter
XM_006724470.3:c.9216C>G	XP_006724533.1:p.Tyr3072Ter
XM_006724471.2:c.9216C>G	XP_006724534.1:p.Tyr3072Ter
XM_006724472.2:c.9087C>G	XP_006724535.1:p.Tyr3029Ter
XM_006724473.2:c.9078C>G	XP_006724536.1:p.Tyr3026Ter
XM_006724474.2:c.9216C>G	XP_006724537.1:p.Tyr3072Ter
XM_006724474.3:c.9216C>G	XP_006724537.1:p.Tyr3072Ter
XM_006724475.2:c.9216C>G	XP_006724538.1:p.Tyr3072Ter
XM_011545467.1:c.9093C>G	XP_011543769.1:p.Tyr3031Ter
XM_011545468.1:c.9216C>G	XP_011543770.1:p.Tyr3072Ter
XM_011545468.2:c.9216C>G	XP_011543770.1:p.Tyr3072Ter
XM_017029328.1:c.9216C>G	XP_016884817.1:p.Tyr3072Ter
XM_017029331.1:c.3390C>G	XP_016884820.1:p.Tyr1130Ter