Canonical Allele Identifier: CA557887335

Gene: ANKH OTULIN

Linked Data

• dbSNP Id: rs1346103331
• gnomAD v2: 5-14716363-C-G
• gnomAD v3: 5-14716254-C-G
• gnomAD v4: 5-14716254-C-G
• MyVariant Identifiers: chr5:g.14716363C>G (hg19) ; chr5:g.14716254C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14716254C>G , CM000667.2:g.14716254C>G	GRCh38
NC_000005.9:g.14716363C>G , CM000667.1:g.14716363C>G	GRCh37
NC_000005.8:g.14769363C>G	NCBI36
NG_008273.1:g.160525G>C
NG_008273.2:g.160532G>C
NG_051625.1:g.60461C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.1141+452G>C (ANKH) MANE Select	ENSP00000284268.6:n.1141+452G>C
ENST00000284268.6:c.1141+452G>C (ANKH)	ENSP00000284268.6:n.1141+452G>C
ENST00000502585.1:n.383+452G>C (ANKH)
NM_054027.4:c.1141+452G>C (ANKH)	NP_473368.1:n.1141+452G>C
NR_046285.1:n.2492-168C>G
NM_054027.5:c.1141+452G>C (ANKH)	NP_473368.1:n.1141+452G>C
XM_011514151.2:c.*3579C>G (OTULIN)	XP_011512453.1:n.*3579C>G
XM_017009644.2:c.1057+452G>C (ANKH)	XP_016865133.1:n.1057+452G>C
NM_054027.6:c.1141+452G>C (ANKH) MANE Select	NP_473368.1:n.1141+452G>C