Canonical Allele Identifier: CA1528877811

Gene: ANKH OTULIN

Linked Data

• dbSNP Id: rs1579995030
• gnomAD v4: 5-14711181-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14711181C>T , CM000667.2:g.14711181C>T	GRCh38
NC_000005.9:g.14711290C>T , CM000667.1:g.14711290C>T	GRCh37
NC_000005.8:g.14764290C>T	NCBI36
NG_008273.1:g.165598G>A
NG_008273.2:g.165605G>A
NG_051625.1:g.55388C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.*16G>A (ANKH) MANE Select	ENSP00000284268.6:n.*16G>A
ENST00000284268.6:c.*16G>A (ANKH)	ENSP00000284268.6:n.*16G>A
ENST00000502585.1:n.737G>A (ANKH)
NM_054027.4:c.*16G>A (ANKH)	NP_473368.1:n.*16G>A
XM_011514151.1:c.*47-1541C>T (OTULIN)	XP_011512453.1:n.*47-1541C>T
NM_054027.5:c.*16G>A (ANKH)	NP_473368.1:n.*16G>A
XM_011514151.2:c.*47-1541C>T (OTULIN)	XP_011512453.1:n.*47-1541C>T
XM_017009644.2:c.*16G>A (ANKH)	XP_016865133.1:n.*16G>A
NM_054027.6:c.*16G>A (ANKH) MANE Select	NP_473368.1:n.*16G>A