Canonical Allele Identifier: CA2765371416

Gene: ANKH OTULIN

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14716408C>A , CM000667.2:g.14716408C>A	GRCh38
NC_000005.9:g.14716517C>A , CM000667.1:g.14716517C>A	GRCh37
NC_000005.8:g.14769517C>A	NCBI36
NG_008273.1:g.160371G>T
NG_008273.2:g.160378G>T
NG_051625.1:g.60615C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.1141+298G>T (ANKH) MANE Select	ENSP00000284268.6:n.1141+298G>T
ENST00000284268.6:c.1141+298G>T (ANKH)	ENSP00000284268.6:n.1141+298G>T
ENST00000502585.1:n.383+298G>T (ANKH)
NM_054027.4:c.1141+298G>T (ANKH)	NP_473368.1:n.1141+298G>T
NR_046285.1:n.2492-14C>A
NM_054027.5:c.1141+298G>T (ANKH)	NP_473368.1:n.1141+298G>T
XM_011514151.2:c.*3733C>A (OTULIN)	XP_011512453.1:n.*3733C>A
XM_017009644.2:c.1057+298G>T (ANKH)	XP_016865133.1:n.1057+298G>T
NM_054027.6:c.1141+298G>T (ANKH) MANE Select	NP_473368.1:n.1141+298G>T