Canonical Allele Identifier: CA10343557

Gene: ANOS1

Linked Data

• ClinVar Variation Id: 516123
• ClinVar RCV Id: RCV000612848 ; RCV000860590 ; RCV001849406 ; RCV001573634
• dbSNP Id: rs137900287
• ExAC: X:8503715 C / A
• gnomAD v2: X-8503715-C-A
• gnomAD v3: X-8535674-C-A
• gnomAD v4: X-8535674-C-A
• COSMIC: COSM4693948
• MyVariant Identifiers: chrX:g.8503715C>A (hg19) ; chrX:g.8535674C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.8535674C>A , CM000685.2:g.8535674C>A	GRCh38
NC_000023.10:g.8503715C>A , CM000685.1:g.8503715C>A	GRCh37
NC_000023.9:g.8463715C>A	NCBI36
NG_007088.1:g.201513G>T
NG_007088.2:g.201513G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262648.8:c.1759G>T MANE Select	ENSP00000262648.3:p.Val587Leu
ENST00000262648.7:c.1759G>T	ENSP00000262648.3:p.Val587Leu
ENST00000481896.1:n.304G>T
ENST00000619786.1:c.1756G>T	ENSP00000478734.1:p.Val586Leu
NM_000216.2:c.1759G>T	NP_000207.2:p.Val587Leu
NM_000216.3:c.1759G>T	NP_000207.2:p.Val587Leu
NM_000216.4:c.1759G>T MANE Select	NP_000207.2:p.Val587Leu