Canonical Allele Identifier: CA10343767

Gene: ANOS1

Linked Data

• ClinVar Variation Id: 2659947
• ClinVar RCV Id: RCV003440936
• dbSNP Id: rs756360027
• ExAC: X:8555862 G / A
• gnomAD v2: X-8555862-G-A
• gnomAD v3: X-8587821-G-A
• gnomAD v4: X-8587821-G-A
• MyVariant Identifiers: chrX:g.8555862G>A (hg19) ; chrX:g.8587821G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.8587821G>A , CM000685.2:g.8587821G>A	GRCh38
NC_000023.10:g.8555862G>A , CM000685.1:g.8555862G>A	GRCh37
NC_000023.9:g.8515862G>A	NCBI36
NG_007088.1:g.149366C>T
NG_007088.2:g.149366C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262648.8:c.699C>T MANE Select	ENSP00000262648.3:p.Asp233=
ENST00000262648.7:c.699C>T	ENSP00000262648.3:p.Asp233=
ENST00000619786.1:c.696C>T	ENSP00000478734.1:p.Asp232=
NM_000216.2:c.699C>T	NP_000207.2:p.Asp233=
XM_005274501.3:c.699C>T	XP_005274558.1:p.Asp233=
NM_000216.3:c.699C>T	NP_000207.2:p.Asp233=
XM_005274501.4:c.699C>T	XP_005274558.1:p.Asp233=
NM_000216.4:c.699C>T MANE Select	NP_000207.2:p.Asp233=