Canonical Allele Identifier: CA10619318

Gene: ANKH OTULIN

Linked Data

• ClinVar Variation Id: 351482
• ClinVar RCV Id: RCV000267288 ; RCV000359623
• dbSNP Id: rs141576604
• gnomAD v2: 5-14710582-T-G
• gnomAD v3: 5-14710473-T-G
• gnomAD v4: 5-14710473-T-G
• MyVariant Identifiers: chr5:g.14710582T>G (hg19) ; chr5:g.14710473T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14710473T>G , CM000667.2:g.14710473T>G	GRCh38
NC_000005.9:g.14710582T>G , CM000667.1:g.14710582T>G	GRCh37
NC_000005.8:g.14763582T>G	NCBI36
NG_008273.1:g.166306A>C
NG_008273.2:g.166313A>C
NG_051625.1:g.54680T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000284268.8:c.*724A>C (ANKH) MANE Select	ENSP00000284268.6:n.*724A>C
ENST00000284268.6:c.*724A>C (ANKH)	ENSP00000284268.6:n.*724A>C
NM_054027.4:c.*724A>C (ANKH)	NP_473368.1:n.*724A>C
XM_011514151.1:c.*47-2249T>G (OTULIN)	XP_011512453.1:n.*47-2249T>G
NM_054027.5:c.*724A>C (ANKH)	NP_473368.1:n.*724A>C
XM_011514151.2:c.*47-2249T>G (OTULIN)	XP_011512453.1:n.*47-2249T>G
XM_017009644.2:c.*724A>C (ANKH)	XP_016865133.1:n.*724A>C
NM_054027.6:c.*724A>C (ANKH) MANE Select	NP_473368.1:n.*724A>C