Canonical Allele Identifier: CA640486075

Gene: ANOS1

Linked Data

• dbSNP Id: rs1396512579
• gnomAD v2: X-8555757-C-A
• gnomAD v3: X-8587716-C-A
• gnomAD v4: X-8587716-C-A
• MyVariant Identifiers: chrX:g.8555757C>A (hg19) ; chrX:g.8587716C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.8587716C>A , CM000685.2:g.8587716C>A	GRCh38
NC_000023.10:g.8555757C>A , CM000685.1:g.8555757C>A	GRCh37
NC_000023.9:g.8515757C>A	NCBI36
NG_007088.1:g.149471G>T
NG_007088.2:g.149471G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262648.8:c.726+78G>T MANE Select	ENSP00000262648.3:n.726+78G>T
ENST00000262648.7:c.726+78G>T	ENSP00000262648.3:n.726+78G>T
ENST00000619786.1:c.723+78G>T	ENSP00000478734.1:n.723+78G>T
NM_000216.2:c.726+78G>T	NP_000207.2:n.726+78G>T
XM_005274501.3:c.726+78G>T	XP_005274558.1:n.726+78G>T
NM_000216.3:c.726+78G>T	NP_000207.2:n.726+78G>T
XM_005274501.4:c.726+78G>T	XP_005274558.1:n.726+78G>T
NM_000216.4:c.726+78G>T MANE Select	NP_000207.2:n.726+78G>T