Canonical Allele Identifier: CA10343871

Gene: ANOS1

Linked Data

• ClinVar Variation Id: 386203
• ClinVar RCV Id: RCV000434432 ; RCV002502554
• dbSNP Id: rs764457546
• ExAC: X:8700006 C / T
• gnomAD v2: X-8700006-C-T
• gnomAD v3: X-8731965-C-T
• gnomAD v4: X-8731965-C-T
• MyVariant Identifiers: chrX:g.8700006C>T (hg19) ; chrX:g.8731965C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.8731965C>T , CM000685.2:g.8731965C>T	GRCh38
NC_000023.10:g.8700006C>T , CM000685.1:g.8700006C>T	GRCh37
NC_000023.9:g.8660006C>T	NCBI36
NG_007088.1:g.5222G>A
NG_007088.2:g.5222G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262648.8:c.72G>A MANE Select	ENSP00000262648.3:p.Ala24=
ENST00000262648.7:c.72G>A	ENSP00000262648.3:p.Ala24=
ENST00000619786.1:c.71G>A	ENSP00000478734.1:p.Arg24Gln
NM_000216.2:c.72G>A	NP_000207.2:p.Ala24=
XM_005274501.3:c.72G>A	XP_005274558.1:p.Ala24=
NM_000216.3:c.72G>A	NP_000207.2:p.Ala24=
XM_005274501.4:c.72G>A	XP_005274558.1:p.Ala24=
NM_000216.4:c.72G>A MANE Select	NP_000207.2:p.Ala24=