Canonical Allele Identifier: CA3208757

Gene: ANKH OTULIN

Linked Data

• dbSNP Id: rs776722373
• ExAC: 5:14711285 G / T
• gnomAD v2: 5-14711285-G-T
• MyVariant Identifiers: chr5:g.14711285G>T (hg19) ; chr5:g.14711176G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14711176G>T , CM000667.2:g.14711176G>T	GRCh38
NC_000005.9:g.14711285G>T , CM000667.1:g.14711285G>T	GRCh37
NC_000005.8:g.14764285G>T	NCBI36
NG_008273.1:g.165603C>A
NG_008273.2:g.165610C>A
NG_051625.1:g.55383G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.*21C>A (ANKH) MANE Select	ENSP00000284268.6:n.*21C>A
ENST00000284268.6:c.*21C>A (ANKH)	ENSP00000284268.6:n.*21C>A
ENST00000502585.1:n.742C>A (ANKH)
NM_054027.4:c.*21C>A (ANKH)	NP_473368.1:n.*21C>A
XM_011514151.1:c.*47-1546G>T (OTULIN)	XP_011512453.1:n.*47-1546G>T
NM_054027.5:c.*21C>A (ANKH)	NP_473368.1:n.*21C>A
XM_011514151.2:c.*47-1546G>T (OTULIN)	XP_011512453.1:n.*47-1546G>T
XM_017009644.2:c.*21C>A (ANKH)	XP_016865133.1:n.*21C>A
NM_054027.6:c.*21C>A (ANKH) MANE Select	NP_473368.1:n.*21C>A