Canonical Allele Identifier: CA1073454304

Gene: ANKH OTULIN

Linked Data

• dbSNP Id: rs1028428100
• gnomAD v3: 5-14711175-A-G
• gnomAD v4: 5-14711175-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14711175A>G , CM000667.2:g.14711175A>G	GRCh38
NC_000005.9:g.14711284A>G , CM000667.1:g.14711284A>G	GRCh37
NC_000005.8:g.14764284A>G	NCBI36
NG_008273.1:g.165604T>C
NG_008273.2:g.165611T>C
NG_051625.1:g.55382A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.*22T>C (ANKH) MANE Select	ENSP00000284268.6:n.*22T>C
ENST00000284268.6:c.*22T>C (ANKH)	ENSP00000284268.6:n.*22T>C
ENST00000502585.1:n.743T>C (ANKH)
NM_054027.4:c.*22T>C (ANKH)	NP_473368.1:n.*22T>C
XM_011514151.1:c.*47-1547A>G (OTULIN)	XP_011512453.1:n.*47-1547A>G
NM_054027.5:c.*22T>C (ANKH)	NP_473368.1:n.*22T>C
XM_011514151.2:c.*47-1547A>G (OTULIN)	XP_011512453.1:n.*47-1547A>G
XM_017009644.2:c.*22T>C (ANKH)	XP_016865133.1:n.*22T>C
NM_054027.6:c.*22T>C (ANKH) MANE Select	NP_473368.1:n.*22T>C