Canonical Allele Identifier: CA2673309388

Gene: ANKH OTULIN

Linked Data

• gnomAD v4: 5-14711184-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14711184G>A , CM000667.2:g.14711184G>A	GRCh38
NC_000005.9:g.14711293G>A , CM000667.1:g.14711293G>A	GRCh37
NC_000005.8:g.14764293G>A	NCBI36
NG_008273.1:g.165595C>T
NG_008273.2:g.165602C>T
NG_051625.1:g.55391G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.*13C>T (ANKH) MANE Select	ENSP00000284268.6:n.*13C>T
ENST00000284268.6:c.*13C>T (ANKH)	ENSP00000284268.6:n.*13C>T
ENST00000502585.1:n.734C>T (ANKH)
NM_054027.4:c.*13C>T (ANKH)	NP_473368.1:n.*13C>T
XM_011514151.1:c.*47-1538G>A (OTULIN)	XP_011512453.1:n.*47-1538G>A
NM_054027.5:c.*13C>T (ANKH)	NP_473368.1:n.*13C>T
XM_011514151.2:c.*47-1538G>A (OTULIN)	XP_011512453.1:n.*47-1538G>A
XM_017009644.2:c.*13C>T (ANKH)	XP_016865133.1:n.*13C>T
NM_054027.6:c.*13C>T (ANKH) MANE Select	NP_473368.1:n.*13C>T