Canonical Allele Identifier: CA10620511

Gene: ANKH OTULIN

Linked Data

• ClinVar Variation Id: 351478
• ClinVar RCV Id: RCV000294478 ; RCV000387535 ; RCV002263627
• dbSNP Id: rs568699300
• gnomAD v2: 5-14710466-C-G
• gnomAD v3: 5-14710357-C-G
• gnomAD v4: 5-14710357-C-G
• MyVariant Identifiers: chr5:g.14710466C>G (hg19) ; chr5:g.14710357C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14710357C>G , CM000667.2:g.14710357C>G	GRCh38
NC_000005.9:g.14710466C>G , CM000667.1:g.14710466C>G	GRCh37
NC_000005.8:g.14763466C>G	NCBI36
NG_008273.1:g.166422G>C
NG_008273.2:g.166429G>C
NG_051625.1:g.54564C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000284268.8:c.*840G>C (ANKH) MANE Select	ENSP00000284268.6:n.*840G>C
ENST00000284268.6:c.*840G>C (ANKH)	ENSP00000284268.6:n.*840G>C
NM_054027.4:c.*840G>C (ANKH)	NP_473368.1:n.*840G>C
XM_011514151.1:c.*47-2365C>G (OTULIN)	XP_011512453.1:n.*47-2365C>G
NM_054027.5:c.*840G>C (ANKH)	NP_473368.1:n.*840G>C
XM_011514151.2:c.*47-2365C>G (OTULIN)	XP_011512453.1:n.*47-2365C>G
XM_017009644.2:c.*840G>C (ANKH)	XP_016865133.1:n.*840G>C
NM_054027.6:c.*840G>C (ANKH) MANE Select	NP_473368.1:n.*840G>C