Canonical Allele Identifier: CA412024563

Gene: ANOS1

Linked Data

• dbSNP Id: rs957612164
• gnomAD v4: X-8731956-G-A
• MyVariant Identifiers: chrX:g.8699997G>A (hg19) ; chrX:g.8731956G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.8731956G>A , CM000685.2:g.8731956G>A	GRCh38
NC_000023.10:g.8699997G>A , CM000685.1:g.8699997G>A	GRCh37
NC_000023.9:g.8659997G>A	NCBI36
NG_007088.1:g.5231C>T
NG_007088.2:g.5231C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262648.8:c.81C>T MANE Select	ENSP00000262648.3:p.Pro27=
ENST00000262648.7:c.81C>T	ENSP00000262648.3:p.Pro27=
ENST00000619786.1:c.80C>T	ENSP00000478734.1:p.Pro27Leu
NM_000216.2:c.81C>T	NP_000207.2:p.Pro27=
XM_005274501.3:c.81C>T	XP_005274558.1:p.Pro27=
NM_000216.3:c.81C>T	NP_000207.2:p.Pro27=
XM_005274501.4:c.81C>T	XP_005274558.1:p.Pro27=
NM_000216.4:c.81C>T MANE Select	NP_000207.2:p.Pro27=