Canonical Allele Identifier: CA2673308155

Gene: ANKH OTULIN

Linked Data

• gnomAD v4: 5-14706980-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14706980G>T , CM000667.2:g.14706980G>T	GRCh38
NC_000005.9:g.14707089G>T , CM000667.1:g.14707089G>T	GRCh37
NC_000005.8:g.14760089G>T	NCBI36
NG_008273.1:g.169799C>A
NG_008273.2:g.169806C>A
NG_051625.1:g.51187G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000284268.8:c.*4217C>A (ANKH) MANE Select	ENSP00000284268.6:n.*4217C>A
ENST00000284268.6:c.*4217C>A (ANKH)	ENSP00000284268.6:n.*4217C>A
NM_054027.4:c.*4217C>A (ANKH)	NP_473368.1:n.*4217C>A
XM_011514151.1:c.*47-5742G>T (OTULIN)	XP_011512453.1:n.*47-5742G>T
XM_011514152.1:c.*47-1958G>T (OTULIN)	XP_011512454.1:n.*47-1958G>T
NM_054027.5:c.*4217C>A (ANKH)	NP_473368.1:n.*4217C>A
XM_011514151.2:c.*47-5742G>T (OTULIN)	XP_011512453.1:n.*47-5742G>T
XM_011514152.2:c.*47-1958G>T (OTULIN)	XP_011512454.1:n.*47-1958G>T
NM_054027.6:c.*4217C>A (ANKH) MANE Select	NP_473368.1:n.*4217C>A