Canonical Allele Identifier: CA344051

Gene: OFD1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13734776G>T , CM000685.2:g.13734776G>T	GRCh38
NC_000023.10:g.13752895G>T , CM000685.1:g.13752895G>T	GRCh37
NC_000023.9:g.13662816G>T	NCBI36
NG_008872.1:g.5064G>T
NG_011555.1:g.4848C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003611.3:c.-296G>T MANE Select	NP_003602.1:n.-296G>T
ENST00000340096.11:c.-296G>T MANE Select	ENSP00000344314.6:n.-296G>T
NM_001330209.1:c.-296G>T	NP_001317138.1:n.-296G>T
NM_001330209.2:c.-296G>T	NP_001317138.1:n.-296G>T
NM_001330210.1:c.-841G>T	NP_001317139.1:n.-841G>T
NM_001330210.2:c.-841G>T	NP_001317139.1:n.-841G>T
NM_003611.2:c.-296G>T	NP_003602.1:n.-296G>T
ENST00000340096.10:c.-296G>T	ENSP00000344314.6:n.-296G>T
ENST00000380567.5:c.-841G>T	ENSP00000369941.1:n.-841G>T
ENST00000380567.6:c.-296G>T	ENSP00000369941.2:n.-296G>T
ENST00000485052.5:n.20G>T
ENST00000485052.6:n.34G>T
ENST00000490265.5:n.16G>T
ENST00000682237.1:c.-296G>T	ENSP00000507121.1:n.-296G>T
ENST00000682953.1:c.-296G>T	ENSP00000507878.1:n.-296G>T
ENST00000683284.1:c.-296G>T	ENSP00000507837.1:n.-296G>T
ENST00000683427.1:c.-296G>T	ENSP00000507290.1:n.-296G>T
ENST00000683713.1:c.-296G>T	ENSP00000507797.1:n.-296G>T
ENST00000684577.1:c.-296G>T	ENSP00000507871.1:n.-296G>T
XM_005274599.2:c.34-472G>T	XP_005274656.1:n.34-472G>T
XM_005274602.2:c.34-472G>T	XP_005274659.1:n.34-472G>T
XM_005274603.2:c.34-472G>T	XP_005274660.1:n.34-472G>T
XM_005274604.2:c.-296G>T	XP_005274661.1:n.-296G>T
XM_005274606.2:c.-629G>T	XP_005274663.1:n.-629G>T
XM_005274606.4:c.-629G>T	XP_005274663.1:n.-629G>T
XM_011545591.1:c.34-472G>T	XP_011543893.1:n.34-472G>T
XM_011545592.1:c.-499G>T	XP_011543894.1:n.-499G>T
XM_011545592.3:c.-499G>T	XP_011543894.1:n.-499G>T
XM_011545593.1:c.34-472G>T	XP_011543895.1:n.34-472G>T
XM_011545596.1:c.34-472G>T	XP_011543898.1:n.34-472G>T
XM_024452468.1:c.-2235G>T	XP_024308236.1:n.-2235G>T
XM_024452469.1:c.-2424G>T	XP_024308237.1:n.-2424G>T
XM_024452470.1:c.-2057G>T	XP_024308238.1:n.-2057G>T
XR_247288.2:n.373-472G>T