Canonical Allele Identifier: CA412024449

Gene: ANOS1

Linked Data

• gnomAD v4: X-8731916-C-A
• MyVariant Identifiers: chrX:g.8699957C>A (hg19) ; chrX:g.8731916C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.8731916C>A , CM000685.2:g.8731916C>A	GRCh38
NC_000023.10:g.8699957C>A , CM000685.1:g.8699957C>A	GRCh37
NC_000023.9:g.8659957C>A	NCBI36
NG_007088.1:g.5271G>T
NG_007088.2:g.5271G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262648.8:c.121G>T MANE Select	ENSP00000262648.3:p.Ala41Ser
ENST00000262648.7:c.121G>T	ENSP00000262648.3:p.Ala41Ser
ENST00000619786.1:c.119G>T	ENSP00000478734.1:p.Cys40Phe
NM_000216.2:c.121G>T	NP_000207.2:p.Ala41Ser
XM_005274501.3:c.121G>T	XP_005274558.1:p.Ala41Ser
NM_000216.3:c.121G>T	NP_000207.2:p.Ala41Ser
XM_005274501.4:c.121G>T	XP_005274558.1:p.Ala41Ser
NM_000216.4:c.121G>T MANE Select	NP_000207.2:p.Ala41Ser