Canonical Allele Identifier: CA640857307

Gene: ANOS1

Linked Data

• dbSNP Id: rs1300236504
• gnomAD v2: X-8699744-G-C
• gnomAD v3: X-8731703-G-C
• gnomAD v4: X-8731703-G-C
• MyVariant Identifiers: chrX:g.8699744G>C (hg19) ; chrX:g.8731703G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.8731703G>C , CM000685.2:g.8731703G>C	GRCh38
NC_000023.10:g.8699744G>C , CM000685.1:g.8699744G>C	GRCh37
NC_000023.9:g.8659744G>C	NCBI36
NG_007088.1:g.5484C>G
NG_007088.2:g.5484C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262648.8:c.207+127C>G MANE Select	ENSP00000262648.3:n.207+127C>G
ENST00000262648.7:c.207+127C>G	ENSP00000262648.3:n.207+127C>G
ENST00000619786.1:c.204+127C>G	ENSP00000478734.1:n.204+127C>G
NM_000216.2:c.207+127C>G	NP_000207.2:n.207+127C>G
XM_005274501.3:c.207+127C>G	XP_005274558.1:n.207+127C>G
NM_000216.3:c.207+127C>G	NP_000207.2:n.207+127C>G
XM_005274501.4:c.207+127C>G	XP_005274558.1:n.207+127C>G
NM_000216.4:c.207+127C>G MANE Select	NP_000207.2:n.207+127C>G