Canonical Allele Identifier: CA515172465

Gene: ANOS1

Linked Data

• dbSNP Id: rs1384725368
• gnomAD v3: X-8731884-G-A
• gnomAD v4: X-8731884-G-A
• MyVariant Identifiers: chrX:g.8699925G>A (hg19) ; chrX:g.8731884G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.8731884G>A , CM000685.2:g.8731884G>A	GRCh38
NC_000023.10:g.8699925G>A , CM000685.1:g.8699925G>A	GRCh37
NC_000023.9:g.8659925G>A	NCBI36
NG_007088.1:g.5303C>T
NG_007088.2:g.5303C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262648.8:c.153C>T MANE Select	ENSP00000262648.3:p.Ser51=
ENST00000262648.7:c.153C>T	ENSP00000262648.3:p.Ser51=
ENST00000619786.1:c.150C>T	ENSP00000478734.1:p.Ser50=
NM_000216.2:c.153C>T	NP_000207.2:p.Ser51=
XM_005274501.3:c.153C>T	XP_005274558.1:p.Ser51=
NM_000216.3:c.153C>T	NP_000207.2:p.Ser51=
XM_005274501.4:c.153C>T	XP_005274558.1:p.Ser51=
NM_000216.4:c.153C>T MANE Select	NP_000207.2:p.Ser51=