Canonical Allele Identifier: CA3208753

Gene: ANKH OTULIN

Linked Data

• ClinVar Variation Id: 903904
• ClinVar RCV Id: RCV001151525 ; RCV001151524
• dbSNP Id: rs772604835
• ExAC: 5:14711276 G / A
• gnomAD v2: 5-14711276-G-A
• gnomAD v3: 5-14711167-G-A
• gnomAD v4: 5-14711167-G-A
• MyVariant Identifiers: chr5:g.14711276G>A (hg19) ; chr5:g.14711167G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14711167G>A , CM000667.2:g.14711167G>A	GRCh38
NC_000005.9:g.14711276G>A , CM000667.1:g.14711276G>A	GRCh37
NC_000005.8:g.14764276G>A	NCBI36
NG_008273.1:g.165612C>T
NG_008273.2:g.165619C>T
NG_051625.1:g.55374G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.*30C>T (ANKH) MANE Select	ENSP00000284268.6:n.*30C>T
ENST00000284268.6:c.*30C>T (ANKH)	ENSP00000284268.6:n.*30C>T
ENST00000502585.1:n.751C>T (ANKH)
NM_054027.4:c.*30C>T (ANKH)	NP_473368.1:n.*30C>T
XM_011514151.1:c.*47-1555G>A (OTULIN)	XP_011512453.1:n.*47-1555G>A
NM_054027.5:c.*30C>T (ANKH)	NP_473368.1:n.*30C>T
XM_011514151.2:c.*47-1555G>A (OTULIN)	XP_011512453.1:n.*47-1555G>A
XM_017009644.2:c.*30C>T (ANKH)	XP_016865133.1:n.*30C>T
NM_054027.6:c.*30C>T (ANKH) MANE Select	NP_473368.1:n.*30C>T