Canonical Allele Identifier: CA412024401

Gene: ANOS1

Linked Data

• dbSNP Id: rs1204161111
• gnomAD v2: X-8699939-C-G
• gnomAD v4: X-8731898-C-G
• MyVariant Identifiers: chrX:g.8699939C>G (hg19) ; chrX:g.8731898C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.8731898C>G , CM000685.2:g.8731898C>G	GRCh38
NC_000023.10:g.8699939C>G , CM000685.1:g.8699939C>G	GRCh37
NC_000023.9:g.8659939C>G	NCBI36
NG_007088.1:g.5289G>C
NG_007088.2:g.5289G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262648.8:c.139G>C MANE Select	ENSP00000262648.3:p.Ala47Pro
ENST00000262648.7:c.139G>C	ENSP00000262648.3:p.Ala47Pro
ENST00000619786.1:c.137G>C	ENSP00000478734.1:p.Arg46Pro
NM_000216.2:c.139G>C	NP_000207.2:p.Ala47Pro
XM_005274501.3:c.139G>C	XP_005274558.1:p.Ala47Pro
NM_000216.3:c.139G>C	NP_000207.2:p.Ala47Pro
XM_005274501.4:c.139G>C	XP_005274558.1:p.Ala47Pro
NM_000216.4:c.139G>C MANE Select	NP_000207.2:p.Ala47Pro