Canonical Allele Identifier: CA515172461
Gene: ANOS1 HGNC NCBI

Linked Data

gnomAD v4: X-8731878-G-A
MyVariant Identifiers: chrX:g.8699919G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.8731878G>A , CM000685.2:g.8731878G>A GRCh38
NC_000023.10:g.8699919G>A , CM000685.1:g.8699919G>A GRCh37
NC_000023.9:g.8659919G>A NCBI36
NG_007088.1:g.5309C>T
NG_007088.2:g.5309C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262648.8:c.159C>T MANE Select ENSP00000262648.3:p.Cys53=
ENST00000262648.7:c.159C>T ENSP00000262648.3:p.Cys53=
ENST00000619786.1:c.156C>T ENSP00000478734.1:p.Cys52=
NM_000216.2:c.159C>T NP_000207.2:p.Cys53=
XM_005274501.3:c.159C>T XP_005274558.1:p.Cys53=
NM_000216.3:c.159C>T NP_000207.2:p.Cys53=
XM_005274501.4:c.159C>T XP_005274558.1:p.Cys53=
NM_000216.4:c.159C>T MANE Select NP_000207.2:p.Cys53=