Canonical Allele Identifier: CA2673309387

Gene: ANKH OTULIN

Linked Data

• gnomAD v4: 5-14711182-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14711182A>C , CM000667.2:g.14711182A>C	GRCh38
NC_000005.9:g.14711291A>C , CM000667.1:g.14711291A>C	GRCh37
NC_000005.8:g.14764291A>C	NCBI36
NG_008273.1:g.165597T>G
NG_008273.2:g.165604T>G
NG_051625.1:g.55389A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.*15T>G (ANKH) MANE Select	ENSP00000284268.6:n.*15T>G
ENST00000284268.6:c.*15T>G (ANKH)	ENSP00000284268.6:n.*15T>G
ENST00000502585.1:n.736T>G (ANKH)
NM_054027.4:c.*15T>G (ANKH)	NP_473368.1:n.*15T>G
XM_011514151.1:c.*47-1540A>C (OTULIN)	XP_011512453.1:n.*47-1540A>C
NM_054027.5:c.*15T>G (ANKH)	NP_473368.1:n.*15T>G
XM_011514151.2:c.*47-1540A>C (OTULIN)	XP_011512453.1:n.*47-1540A>C
XM_017009644.2:c.*15T>G (ANKH)	XP_016865133.1:n.*15T>G
NM_054027.6:c.*15T>G (ANKH) MANE Select	NP_473368.1:n.*15T>G