Canonical Allele Identifier: CA2673308151

Gene: ANKH OTULIN

Linked Data

• gnomAD v4: 5-14706960-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14706960A>G , CM000667.2:g.14706960A>G	GRCh38
NC_000005.9:g.14707069A>G , CM000667.1:g.14707069A>G	GRCh37
NC_000005.8:g.14760069A>G	NCBI36
NG_008273.1:g.169819T>C
NG_008273.2:g.169826T>C
NG_051625.1:g.51167A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000284268.8:c.*4237T>C (ANKH) MANE Select	ENSP00000284268.6:n.*4237T>C
ENST00000284268.6:c.*4237T>C (ANKH)	ENSP00000284268.6:n.*4237T>C
NM_054027.4:c.*4237T>C (ANKH)	NP_473368.1:n.*4237T>C
XM_011514151.1:c.*47-5762A>G (OTULIN)	XP_011512453.1:n.*47-5762A>G
XM_011514152.1:c.*47-1978A>G (OTULIN)	XP_011512454.1:n.*47-1978A>G
NM_054027.5:c.*4237T>C (ANKH)	NP_473368.1:n.*4237T>C
XM_011514151.2:c.*47-5762A>G (OTULIN)	XP_011512453.1:n.*47-5762A>G
XM_011514152.2:c.*47-1978A>G (OTULIN)	XP_011512454.1:n.*47-1978A>G
NM_054027.6:c.*4237T>C (ANKH) MANE Select	NP_473368.1:n.*4237T>C