Canonical Allele Identifier: CA412342732

Gene: OFD1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13756669C>G , CM000685.2:g.13756669C>G	GRCh38
NC_000023.10:g.13774788C>G , CM000685.1:g.13774788C>G	GRCh37
NC_000023.9:g.13684709C>G	NCBI36
NG_008872.1:g.26957C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_003611.3:c.1313C>G MANE Select	NP_003602.1:p.Ser438Ter
ENST00000340096.11:c.1313C>G MANE Select	ENSP00000344314.6:p.Ser438Ter
NM_001330209.1:c.1193C>G	NP_001317138.1:p.Ser398Ter
NM_001330209.2:c.1193C>G	NP_001317138.1:p.Ser398Ter
NM_001330210.1:c.893C>G	NP_001317139.1:p.Ser298Ter
NM_001330210.2:c.893C>G	NP_001317139.1:p.Ser298Ter
NM_003611.2:c.1313C>G	NP_003602.1:p.Ser438Ter
ENST00000340096.10:c.1313C>G	ENSP00000344314.6:p.Ser438Ter
ENST00000380550.6:c.1193C>G	ENSP00000369923.3:p.Ser398Ter
ENST00000380567.5:c.893C>G	ENSP00000369941.1:p.Ser298Ter
ENST00000380567.6:c.*1006C>G	ENSP00000369941.2:n.*1006C>G
ENST00000398395.7:c.782C>G	ENSP00000381432.4:p.Ser261Ter
ENST00000398395.8:c.*886C>G	ENSP00000381432.5:n.*886C>G
ENST00000464463.6:n.1476C>G
ENST00000490265.5:n.2288C>G
ENST00000490265.6:n.1842C>G
ENST00000682237.1:c.*873C>G	ENSP00000507121.1:n.*873C>G
ENST00000682562.1:c.*2715C>G	ENSP00000507874.1:n.*2715C>G
ENST00000682953.1:c.*2040C>G	ENSP00000507878.1:n.*2040C>G
ENST00000683055.1:c.*82C>G	ENSP00000508191.1:n.*82C>G
ENST00000683284.1:c.*1544C>G	ENSP00000507837.1:n.*1544C>G
ENST00000683427.1:c.*82C>G	ENSP00000507290.1:n.*82C>G
ENST00000683454.1:n.1327C>G
ENST00000683637.1:n.2422C>G
ENST00000683655.1:c.*1527C>G	ENSP00000506770.1:n.*1527C>G
ENST00000683713.1:c.*1544C>G	ENSP00000507797.1:n.*1544C>G
ENST00000684577.1:c.*1006C>G	ENSP00000507871.1:n.*1006C>G
XM_005274599.2:c.1334C>G	XP_005274656.1:p.Ser445Ter
XM_005274602.2:c.1334C>G	XP_005274659.1:p.Ser445Ter
XM_005274603.2:c.1214C>G	XP_005274660.1:p.Ser405Ter
XM_005274604.2:c.1193C>G	XP_005274661.1:p.Ser398Ter
XM_005274606.2:c.1169C>G	XP_005274663.1:p.Ser390Ter
XM_005274606.4:c.1169C>G	XP_005274663.1:p.Ser390Ter
XM_005274607.3:c.893C>G	XP_005274664.1:p.Ser298Ter
XM_011545591.1:c.1334C>G	XP_011543893.1:p.Ser445Ter
XM_011545592.1:c.1121C>G	XP_011543894.1:p.Ser374Ter
XM_011545592.3:c.1121C>G	XP_011543894.1:p.Ser374Ter
XM_011545593.1:c.1334C>G	XP_011543895.1:p.Ser445Ter
XM_011545594.1:c.992C>G	XP_011543896.1:p.Ser331Ter
XM_011545594.3:c.992C>G	XP_011543896.1:p.Ser331Ter
XM_011545595.1:c.992C>G	XP_011543897.1:p.Ser331Ter
XM_011545596.1:c.1334C>G	XP_011543898.1:p.Ser445Ter
XM_011545597.1:c.893C>G	XP_011543899.1:p.Ser298Ter
XM_011545597.2:c.893C>G	XP_011543899.1:p.Ser298Ter
XM_011545598.1:c.38C>G	XP_011543900.1:p.Ser13Ter
XM_017029909.1:c.893C>G	XP_016885398.1:p.Ser298Ter
XM_017029911.1:c.371C>G	XP_016885400.1:p.Ser124Ter
XM_024452468.1:c.38C>G	XP_024308236.1:p.Ser13Ter
XM_024452469.1:c.38C>G	XP_024308237.1:p.Ser13Ter
XM_024452470.1:c.38C>G	XP_024308238.1:p.Ser13Ter
XM_024452471.1:c.38C>G	XP_024308239.1:p.Ser13Ter
XR_247288.2:n.1673C>G