Canonical Allele Identifier: CA515172427

Gene: ANOS1

Linked Data

• gnomAD v4: X-8731839-C-T
• MyVariant Identifiers: chrX:g.8699880C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.8731839C>T , CM000685.2:g.8731839C>T	GRCh38
NC_000023.10:g.8699880C>T , CM000685.1:g.8699880C>T	GRCh37
NC_000023.9:g.8659880C>T	NCBI36
NG_007088.1:g.5348G>A
NG_007088.2:g.5348G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262648.8:c.198G>A MANE Select	ENSP00000262648.3:p.Gln66=
ENST00000262648.7:c.198G>A	ENSP00000262648.3:p.Gln66=
ENST00000619786.1:c.195G>A	ENSP00000478734.1:p.Gln65=
NM_000216.2:c.198G>A	NP_000207.2:p.Gln66=
XM_005274501.3:c.198G>A	XP_005274558.1:p.Gln66=
NM_000216.3:c.198G>A	NP_000207.2:p.Gln66=
XM_005274501.4:c.198G>A	XP_005274558.1:p.Gln66=
NM_000216.4:c.198G>A MANE Select	NP_000207.2:p.Gln66=