Canonical Allele Identifier: CA412024404

Gene: ANOS1

Linked Data

• gnomAD v4: X-8731899-G-T
• MyVariant Identifiers: chrX:g.8699940G>T (hg19) ; chrX:g.8731899G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.8731899G>T , CM000685.2:g.8731899G>T	GRCh38
NC_000023.10:g.8699940G>T , CM000685.1:g.8699940G>T	GRCh37
NC_000023.9:g.8659940G>T	NCBI36
NG_007088.1:g.5288C>A
NG_007088.2:g.5288C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262648.8:c.138C>A MANE Select	ENSP00000262648.3:p.Arg46=
ENST00000262648.7:c.138C>A	ENSP00000262648.3:p.Arg46=
ENST00000619786.1:c.136C>A	ENSP00000478734.1:p.Arg46Ser
NM_000216.2:c.138C>A	NP_000207.2:p.Arg46=
XM_005274501.3:c.138C>A	XP_005274558.1:p.Arg46=
NM_000216.3:c.138C>A	NP_000207.2:p.Arg46=
XM_005274501.4:c.138C>A	XP_005274558.1:p.Arg46=
NM_000216.4:c.138C>A MANE Select	NP_000207.2:p.Arg46=