Canonical Allele Identifier: CA412024400

Gene: ANOS1

Linked Data

• ClinVar Variation Id: 2002911
• ClinVar RCV Id: RCV002824943
• MyVariant Identifiers: chrX:g.8699939C>A (hg19) ; chrX:g.8731898C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.8731898C>A , CM000685.2:g.8731898C>A	GRCh38
NC_000023.10:g.8699939C>A , CM000685.1:g.8699939C>A	GRCh37
NC_000023.9:g.8659939C>A	NCBI36
NG_007088.1:g.5289G>T
NG_007088.2:g.5289G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262648.8:c.139G>T MANE Select	ENSP00000262648.3:p.Ala47Ser
ENST00000262648.7:c.139G>T	ENSP00000262648.3:p.Ala47Ser
ENST00000619786.1:c.137G>T	ENSP00000478734.1:p.Arg46Leu
NM_000216.2:c.139G>T	NP_000207.2:p.Ala47Ser
XM_005274501.3:c.139G>T	XP_005274558.1:p.Ala47Ser
NM_000216.3:c.139G>T	NP_000207.2:p.Ala47Ser
XM_005274501.4:c.139G>T	XP_005274558.1:p.Ala47Ser
NM_000216.4:c.139G>T MANE Select	NP_000207.2:p.Ala47Ser