Canonical Allele Identifier: CA879236373

Gene: ANOS1

Linked Data

• dbSNP Id: rs1243880197
• gnomAD v3: X-8731610-G-A
• gnomAD v4: X-8731610-G-A
• MyVariant Identifiers: chrX:g.8699651G>A (hg19) ; chrX:g.8731610G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.8731610G>A , CM000685.2:g.8731610G>A	GRCh38
NC_000023.10:g.8699651G>A , CM000685.1:g.8699651G>A	GRCh37
NC_000023.9:g.8659651G>A	NCBI36
NG_007088.1:g.5577C>T
NG_007088.2:g.5577C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262648.8:c.207+220C>T MANE Select	ENSP00000262648.3:n.207+220C>T
ENST00000262648.7:c.207+220C>T	ENSP00000262648.3:n.207+220C>T
ENST00000619786.1:c.204+220C>T	ENSP00000478734.1:n.204+220C>T
NM_000216.2:c.207+220C>T	NP_000207.2:n.207+220C>T
XM_005274501.3:c.207+220C>T	XP_005274558.1:n.207+220C>T
NM_000216.3:c.207+220C>T	NP_000207.2:n.207+220C>T
XM_005274501.4:c.207+220C>T	XP_005274558.1:n.207+220C>T
NM_000216.4:c.207+220C>T MANE Select	NP_000207.2:n.207+220C>T