Canonical Allele Identifier: CA114019189

Gene: ANKH OTULIN

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14704962C>T , CM000667.2:g.14704962C>T	GRCh38
NC_000005.9:g.14705071C>T , CM000667.1:g.14705071C>T	GRCh37
NC_000005.8:g.14758071C>T	NCBI36
NG_008273.1:g.171817G>A
NG_008273.2:g.171824G>A
NG_051625.1:g.49169C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.*6235G>A (ANKH) MANE Select	ENSP00000284268.6:n.*6235G>A
ENST00000284268.6:c.*6235G>A (ANKH)	ENSP00000284268.6:n.*6235G>A
NM_054027.4:c.*6235G>A (ANKH)	NP_473368.1:n.*6235G>A
XM_011514151.1:c.*47-7760C>T (OTULIN)	XP_011512453.1:n.*47-7760C>T
XM_011514152.1:c.*47-3976C>T (OTULIN)	XP_011512454.1:n.*47-3976C>T
NM_054027.5:c.*6235G>A (ANKH)	NP_473368.1:n.*6235G>A
XM_011514151.2:c.*47-7760C>T (OTULIN)	XP_011512453.1:n.*47-7760C>T
XM_011514152.2:c.*47-3976C>T (OTULIN)	XP_011512454.1:n.*47-3976C>T
NM_054027.6:c.*6235G>A (ANKH) MANE Select	NP_473368.1:n.*6235G>A