Canonical Allele Identifier: CA114719799

Gene: ANKH OTULIN

Linked Data

• dbSNP Id: rs887775509
• gnomAD v3: 5-14716456-C-T
• gnomAD v4: 5-14716456-C-T
• MyVariant Identifiers: chr5:g.14716565C>T (hg19) ; chr5:g.14716456C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14716456C>T , CM000667.2:g.14716456C>T	GRCh38
NC_000005.9:g.14716565C>T , CM000667.1:g.14716565C>T	GRCh37
NC_000005.8:g.14769565C>T	NCBI36
NG_008273.1:g.160323G>A
NG_008273.2:g.160330G>A
NG_051625.1:g.60663C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.1141+250G>A (ANKH) MANE Select	ENSP00000284268.6:n.1141+250G>A
ENST00000284268.6:c.1141+250G>A (ANKH)	ENSP00000284268.6:n.1141+250G>A
ENST00000502585.1:n.383+250G>A (ANKH)
NM_054027.4:c.1141+250G>A (ANKH)	NP_473368.1:n.1141+250G>A
NR_046285.1:n.2526C>T
NM_054027.5:c.1141+250G>A (ANKH)	NP_473368.1:n.1141+250G>A
XM_011514151.2:c.*3781C>T (OTULIN)	XP_011512453.1:n.*3781C>T
XM_017009644.2:c.1057+250G>A (ANKH)	XP_016865133.1:n.1057+250G>A
NM_054027.6:c.1141+250G>A (ANKH) MANE Select	NP_473368.1:n.1141+250G>A