Canonical Allele Identifier: CA172901

Gene: OFD1

Linked Data

• ClinVar Variation Id: 159473
• ClinVar RCV Id: RCV000146986 ; RCV000230007 ; RCV001727597 ; RCV004019776 ; RCV002478409
• dbSNP Id: rs139848884
• ExAC: X:13764958 T / C
• gnomAD v2: X-13764958-T-C
• gnomAD v3: X-13746839-T-C
• gnomAD v4: X-13746839-T-C
• MyVariant Identifiers: chrX:g.13764958T>C (hg19) ; chrX:g.13746839T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13746839T>C , CM000685.2:g.13746839T>C	GRCh38
NC_000023.10:g.13764958T>C , CM000685.1:g.13764958T>C	GRCh37
NC_000023.9:g.13674879T>C	NCBI36
NG_008872.1:g.17127T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380567.6:c.*407T>C	ENSP00000369941.2:n.*407T>C
ENST00000398395.8:c.*407T>C	ENSP00000381432.5:n.*407T>C
ENST00000464463.6:n.997T>C
ENST00000490265.6:n.576T>C
ENST00000682237.1:c.714T>C	ENSP00000507121.1:p.Tyr238=
ENST00000682562.1:c.*407T>C	ENSP00000507874.1:n.*407T>C
ENST00000682953.1:c.*777T>C	ENSP00000507878.1:n.*777T>C
ENST00000683055.1:c.609T>C	ENSP00000508191.1:p.Tyr203=
ENST00000683065.1:n.123T>C
ENST00000683284.1:c.*281T>C	ENSP00000507837.1:n.*281T>C
ENST00000683427.1:c.714T>C	ENSP00000507290.1:p.Tyr238=
ENST00000683454.1:n.728T>C
ENST00000683637.1:n.1159T>C
ENST00000683655.1:c.*264T>C	ENSP00000506770.1:n.*264T>C
ENST00000683713.1:c.*281T>C	ENSP00000507797.1:n.*281T>C
ENST00000684577.1:c.*407T>C	ENSP00000507871.1:n.*407T>C
ENST00000340096.11:c.714T>C MANE Select	ENSP00000344314.6:p.Tyr238=
ENST00000340096.10:c.714T>C	ENSP00000344314.6:p.Tyr238=
ENST00000380550.6:c.714T>C	ENSP00000369923.3:p.Tyr238=
ENST00000380567.5:c.294T>C	ENSP00000369941.1:p.Tyr98=
ENST00000398395.7:c.303T>C	ENSP00000381432.4:p.Tyr101=
ENST00000490265.5:n.1025T>C
NM_003611.2:c.714T>C	NP_003602.1:p.Tyr238=
XM_005274599.2:c.735T>C	XP_005274656.1:p.Tyr245=
XM_005274602.2:c.735T>C	XP_005274659.1:p.Tyr245=
XM_005274603.2:c.735T>C	XP_005274660.1:p.Tyr245=
XM_005274604.2:c.714T>C	XP_005274661.1:p.Tyr238=
XM_005274606.2:c.570T>C	XP_005274663.1:p.Tyr190=
XM_005274607.3:c.294T>C	XP_005274664.1:p.Tyr98=
XM_011545591.1:c.735T>C	XP_011543893.1:p.Tyr245=
XM_011545592.1:c.522T>C	XP_011543894.1:p.Tyr174=
XM_011545593.1:c.735T>C	XP_011543895.1:p.Tyr245=
XM_011545594.1:c.393T>C	XP_011543896.1:p.Tyr131=
XM_011545595.1:c.393T>C	XP_011543897.1:p.Tyr131=
XM_011545596.1:c.735T>C	XP_011543898.1:p.Tyr245=
XM_011545597.1:c.294T>C	XP_011543899.1:p.Tyr98=
XR_247288.2:n.1074T>C
NM_001330209.1:c.714T>C	NP_001317138.1:p.Tyr238=
NM_001330210.1:c.294T>C	NP_001317139.1:p.Tyr98=
XM_005274606.4:c.570T>C	XP_005274663.1:p.Tyr190=
XM_011545592.3:c.522T>C	XP_011543894.1:p.Tyr174=
XM_011545594.3:c.393T>C	XP_011543896.1:p.Tyr131=
XM_011545597.2:c.294T>C	XP_011543899.1:p.Tyr98=
XM_017029909.1:c.294T>C	XP_016885398.1:p.Tyr98=
XM_024452468.1:c.-1226T>C	XP_024308236.1:n.-1226T>C
XM_024452469.1:c.-1226T>C	XP_024308237.1:n.-1226T>C
XM_024452470.1:c.-1226T>C	XP_024308238.1:n.-1226T>C
XM_024452471.1:c.-1226T>C	XP_024308239.1:n.-1226T>C
NM_003611.3:c.714T>C MANE Select	NP_003602.1:p.Tyr238=
NM_001330209.2:c.714T>C	NP_001317138.1:p.Tyr238=
NM_001330210.2:c.294T>C	NP_001317139.1:p.Tyr98=