Canonical Allele Identifier: CA1528880609

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14716419G= , CM000667.2:g.14716419G= GRCh38
NC_000005.9:g.14716528G= , CM000667.1:g.14716528G= GRCh37
NC_000005.8:g.14769528G= NCBI36
NG_008273.1:g.160360C=
NG_008273.2:g.160367C=
NG_051625.1:g.60626G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.1141+287C= (ANKH) MANE Select ENSP00000284268.6:n.1141+287C=
ENST00000284268.6:c.1141+287C= (ANKH) ENSP00000284268.6:n.1141+287C=
ENST00000502585.1:n.383+287C= (ANKH)
NM_054027.4:c.1141+287C= (ANKH) NP_473368.1:n.1141+287C=
NR_046285.1:n.2492-3G=
NM_054027.5:c.1141+287C= (ANKH) NP_473368.1:n.1141+287C=
XM_011514151.2:c.*3744G= (OTULIN) XP_011512453.1:n.*3744G=
XM_017009644.2:c.1057+287C= (ANKH) XP_016865133.1:n.1057+287C=
NM_054027.6:c.1141+287C= (ANKH) MANE Select NP_473368.1:n.1141+287C=