Canonical Allele Identifier: CA412024461

Gene: ANOS1

Linked Data

• gnomAD v4: X-8731920-C-A
• MyVariant Identifiers: chrX:g.8699961C>A (hg19) ; chrX:g.8731920C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.8731920C>A , CM000685.2:g.8731920C>A	GRCh38
NC_000023.10:g.8699961C>A , CM000685.1:g.8699961C>A	GRCh37
NC_000023.9:g.8659961C>A	NCBI36
NG_007088.1:g.5267G>T
NG_007088.2:g.5267G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262648.8:c.117G>T MANE Select	ENSP00000262648.3:p.Leu39=
ENST00000262648.7:c.117G>T	ENSP00000262648.3:p.Leu39=
ENST00000619786.1:c.115G>T	ENSP00000478734.1:p.Val39Phe
NM_000216.2:c.117G>T	NP_000207.2:p.Leu39=
XM_005274501.3:c.117G>T	XP_005274558.1:p.Leu39=
NM_000216.3:c.117G>T	NP_000207.2:p.Leu39=
XM_005274501.4:c.117G>T	XP_005274558.1:p.Leu39=
NM_000216.4:c.117G>T MANE Select	NP_000207.2:p.Leu39=