Canonical Allele Identifier: CA10623031

Gene: ANKH OTULIN

Linked Data

• ClinVar Variation Id: 351457
• ClinVar RCV Id: RCV000281330 ; RCV000338750
• dbSNP Id: rs25991
• gnomAD v2: 5-14709199-T-C
• gnomAD v3: 5-14709090-T-C
• gnomAD v4: 5-14709090-T-C
• MyVariant Identifiers: chr5:g.14709199T>C (hg19) ; chr5:g.14709090T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14709090T>C , CM000667.2:g.14709090T>C	GRCh38
NC_000005.9:g.14709199T>C , CM000667.1:g.14709199T>C	GRCh37
NC_000005.8:g.14762199T>C	NCBI36
NG_008273.1:g.167689A>G
NG_008273.2:g.167696A>G
NG_051625.1:g.53297T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000284268.8:c.*2107A>G (ANKH) MANE Select	ENSP00000284268.6:n.*2107A>G
ENST00000284268.6:c.*2107A>G (ANKH)	ENSP00000284268.6:n.*2107A>G
NM_054027.4:c.*2107A>G (ANKH)	NP_473368.1:n.*2107A>G
XM_011514151.1:c.*47-3632T>C (OTULIN)	XP_011512453.1:n.*47-3632T>C
NM_054027.5:c.*2107A>G (ANKH)	NP_473368.1:n.*2107A>G
XM_011514151.2:c.*47-3632T>C (OTULIN)	XP_011512453.1:n.*47-3632T>C
NM_054027.6:c.*2107A>G (ANKH) MANE Select	NP_473368.1:n.*2107A>G