Canonical Allele Identifier: CA3208895

Gene: ANKH OTULIN

Linked Data

• dbSNP Id: rs773585227
• ExAC: 5:14713757 G / C
• gnomAD v2: 5-14713757-G-C
• gnomAD v4: 5-14713648-G-C
• MyVariant Identifiers: chr5:g.14713757G>C (hg19) ; chr5:g.14713648G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14713648G>C , CM000667.2:g.14713648G>C	GRCh38
NC_000005.9:g.14713757G>C , CM000667.1:g.14713757G>C	GRCh37
NC_000005.8:g.14766757G>C	NCBI36
NG_008273.1:g.163131C>G
NG_008273.2:g.163138C>G
NG_051625.1:g.57855G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.1161C>G (ANKH) MANE Select	ENSP00000284268.6:p.Leu387=
ENST00000284268.6:c.1161C>G (ANKH)	ENSP00000284268.6:p.Leu387=
ENST00000502585.1:n.403C>G (ANKH)
NM_054027.4:c.1161C>G (ANKH)	NP_473368.1:p.Leu387=
NR_046285.1:n.955G>C
NM_054027.5:c.1161C>G (ANKH)	NP_473368.1:p.Leu387=
XM_011514151.2:c.*973G>C (OTULIN)	XP_011512453.1:n.*973G>C
XM_017009644.2:c.1077C>G (ANKH)	XP_016865133.1:p.Leu359=
NM_054027.6:c.1161C>G (ANKH) MANE Select	NP_473368.1:p.Leu387=