Canonical Allele Identifier: CA1528880614

Gene: ANKH OTULIN

Linked Data

• dbSNP Id: rs1737461951

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14716425G>C , CM000667.2:g.14716425G>C	GRCh38
NC_000005.9:g.14716534G>C , CM000667.1:g.14716534G>C	GRCh37
NC_000005.8:g.14769534G>C	NCBI36
NG_008273.1:g.160354C>G
NG_008273.2:g.160361C>G
NG_051625.1:g.60632G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.1141+281C>G (ANKH) MANE Select	ENSP00000284268.6:n.1141+281C>G
ENST00000284268.6:c.1141+281C>G (ANKH)	ENSP00000284268.6:n.1141+281C>G
ENST00000502585.1:n.383+281C>G (ANKH)
NM_054027.4:c.1141+281C>G (ANKH)	NP_473368.1:n.1141+281C>G
NR_046285.1:n.2495G>C
NM_054027.5:c.1141+281C>G (ANKH)	NP_473368.1:n.1141+281C>G
XM_011514151.2:c.*3750G>C (OTULIN)	XP_011512453.1:n.*3750G>C
XM_017009644.2:c.1057+281C>G (ANKH)	XP_016865133.1:n.1057+281C>G
NM_054027.6:c.1141+281C>G (ANKH) MANE Select	NP_473368.1:n.1141+281C>G