Canonical Allele Identifier: CA2580590249

Gene: ANKH OTULIN

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14711166T>A , CM000667.2:g.14711166T>A	GRCh38
NC_000005.9:g.14711275T>A , CM000667.1:g.14711275T>A	GRCh37
NC_000005.8:g.14764275T>A	NCBI36
NG_008273.1:g.165613A>T
NG_008273.2:g.165620A>T
NG_051625.1:g.55373T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.*31A>T (ANKH) MANE Select	ENSP00000284268.6:n.*31A>T
ENST00000284268.6:c.*31A>T (ANKH)	ENSP00000284268.6:n.*31A>T
ENST00000502585.1:n.752A>T (ANKH)
NM_054027.4:c.*31A>T (ANKH)	NP_473368.1:n.*31A>T
XM_011514151.1:c.*47-1556T>A (OTULIN)	XP_011512453.1:n.*47-1556T>A
NM_054027.5:c.*31A>T (ANKH)	NP_473368.1:n.*31A>T
XM_011514151.2:c.*47-1556T>A (OTULIN)	XP_011512453.1:n.*47-1556T>A
XM_017009644.2:c.*31A>T (ANKH)	XP_016865133.1:n.*31A>T
NM_054027.6:c.*31A>T (ANKH) MANE Select	NP_473368.1:n.*31A>T