Canonical Allele Identifier: CA412024326

Gene: ANOS1

Linked Data

• gnomAD v4: X-8731865-T-C
• MyVariant Identifiers: chrX:g.8699906T>C (hg19) ; chrX:g.8731865T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.8731865T>C , CM000685.2:g.8731865T>C	GRCh38
NC_000023.10:g.8699906T>C , CM000685.1:g.8699906T>C	GRCh37
NC_000023.9:g.8659906T>C	NCBI36
NG_007088.1:g.5322A>G
NG_007088.2:g.5322A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262648.8:c.172A>G MANE Select	ENSP00000262648.3:p.Ile58Val
ENST00000262648.7:c.172A>G	ENSP00000262648.3:p.Ile58Val
ENST00000619786.1:c.169A>G	ENSP00000478734.1:p.Ile57Val
NM_000216.2:c.172A>G	NP_000207.2:p.Ile58Val
XM_005274501.3:c.172A>G	XP_005274558.1:p.Ile58Val
NM_000216.3:c.172A>G	NP_000207.2:p.Ile58Val
XM_005274501.4:c.172A>G	XP_005274558.1:p.Ile58Val
NM_000216.4:c.172A>G MANE Select	NP_000207.2:p.Ile58Val