Canonical Allele Identifier: CA12075724

Gene: ANKH OTULIN

Linked Data

• dbSNP Id: rs116452229
• gnomAD v2: 5-14716348-C-A
• gnomAD v3: 5-14716239-C-A
• gnomAD v4: 5-14716239-C-A
• MyVariant Identifiers: chr5:g.14716348C>A (hg19) ; chr5:g.14716239C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14716239C>A , CM000667.2:g.14716239C>A	GRCh38
NC_000005.9:g.14716348C>A , CM000667.1:g.14716348C>A	GRCh37
NC_000005.8:g.14769348C>A	NCBI36
NG_008273.1:g.160540G>T
NG_008273.2:g.160547G>T
NG_051625.1:g.60446C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.1141+467G>T (ANKH) MANE Select	ENSP00000284268.6:n.1141+467G>T
ENST00000284268.6:c.1141+467G>T (ANKH)	ENSP00000284268.6:n.1141+467G>T
ENST00000502585.1:n.383+467G>T (ANKH)
NM_054027.4:c.1141+467G>T (ANKH)	NP_473368.1:n.1141+467G>T
NR_046285.1:n.2492-183C>A
NM_054027.5:c.1141+467G>T (ANKH)	NP_473368.1:n.1141+467G>T
XM_011514151.2:c.*3564C>A (OTULIN)	XP_011512453.1:n.*3564C>A
XM_017009644.2:c.1057+467G>T (ANKH)	XP_016865133.1:n.1057+467G>T
NM_054027.6:c.1141+467G>T (ANKH) MANE Select	NP_473368.1:n.1141+467G>T