Canonical Allele Identifier: CA1528880594

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14716390G= , CM000667.2:g.14716390G= GRCh38
NC_000005.9:g.14716499G= , CM000667.1:g.14716499G= GRCh37
NC_000005.8:g.14769499G= NCBI36
NG_008273.1:g.160389C=
NG_008273.2:g.160396C=
NG_051625.1:g.60597G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.1141+316C= (ANKH) MANE Select ENSP00000284268.6:n.1141+316C=
ENST00000284268.6:c.1141+316C= (ANKH) ENSP00000284268.6:n.1141+316C=
ENST00000502585.1:n.383+316C= (ANKH)
NM_054027.4:c.1141+316C= (ANKH) NP_473368.1:n.1141+316C=
NR_046285.1:n.2492-32G=
NM_054027.5:c.1141+316C= (ANKH) NP_473368.1:n.1141+316C=
XM_011514151.2:c.*3715G= (OTULIN) XP_011512453.1:n.*3715G=
XM_017009644.2:c.1057+316C= (ANKH) XP_016865133.1:n.1057+316C=
NM_054027.6:c.1141+316C= (ANKH) MANE Select NP_473368.1:n.1141+316C=