Canonical Allele Identifier: CA412024388

Gene: ANOS1

Linked Data

• dbSNP Id: rs1932982668
• gnomAD v4: X-8731894-C-T
• MyVariant Identifiers: chrX:g.8699935C>T (hg19) ; chrX:g.8731894C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.8731894C>T , CM000685.2:g.8731894C>T	GRCh38
NC_000023.10:g.8699935C>T , CM000685.1:g.8699935C>T	GRCh37
NC_000023.9:g.8659935C>T	NCBI36
NG_007088.1:g.5293G>A
NG_007088.2:g.5293G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262648.8:c.143G>A MANE Select	ENSP00000262648.3:p.Arg48His
ENST00000262648.7:c.143G>A	ENSP00000262648.3:p.Arg48His
ENST00000619786.1:c.141G>A	ENSP00000478734.1:p.Ser47=
NM_000216.2:c.143G>A	NP_000207.2:p.Arg48His
XM_005274501.3:c.143G>A	XP_005274558.1:p.Arg48His
NM_000216.3:c.143G>A	NP_000207.2:p.Arg48His
XM_005274501.4:c.143G>A	XP_005274558.1:p.Arg48His
NM_000216.4:c.143G>A MANE Select	NP_000207.2:p.Arg48His