Canonical Allele Identifier: CA805272296

Gene: ANKH OTULIN

Linked Data

• dbSNP Id: rs1012772909
• gnomAD v3: 5-14716446-T-C
• gnomAD v4: 5-14716446-T-C
• MyVariant Identifiers: chr5:g.14716555T>C (hg19) ; chr5:g.14716446T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14716446T>C , CM000667.2:g.14716446T>C	GRCh38
NC_000005.9:g.14716555T>C , CM000667.1:g.14716555T>C	GRCh37
NC_000005.8:g.14769555T>C	NCBI36
NG_008273.1:g.160333A>G
NG_008273.2:g.160340A>G
NG_051625.1:g.60653T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.1141+260A>G (ANKH) MANE Select	ENSP00000284268.6:n.1141+260A>G
ENST00000284268.6:c.1141+260A>G (ANKH)	ENSP00000284268.6:n.1141+260A>G
ENST00000502585.1:n.383+260A>G (ANKH)
NM_054027.4:c.1141+260A>G (ANKH)	NP_473368.1:n.1141+260A>G
NR_046285.1:n.2516T>C
NM_054027.5:c.1141+260A>G (ANKH)	NP_473368.1:n.1141+260A>G
XM_011514151.2:c.*3771T>C (OTULIN)	XP_011512453.1:n.*3771T>C
XM_017009644.2:c.1057+260A>G (ANKH)	XP_016865133.1:n.1057+260A>G
NM_054027.6:c.1141+260A>G (ANKH) MANE Select	NP_473368.1:n.1141+260A>G