Canonical Allele Identifier: CA412024243

Gene: ANOS1

Linked Data

• ClinVar Variation Id: 2025220
• ClinVar RCV Id: RCV002852991
• MyVariant Identifiers: chrX:g.8699871C>G (hg19) ; chrX:g.8731830C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.8731830C>G , CM000685.2:g.8731830C>G	GRCh38
NC_000023.10:g.8699871C>G , CM000685.1:g.8699871C>G	GRCh37
NC_000023.9:g.8659871C>G	NCBI36
NG_007088.1:g.5357G>C
NG_007088.2:g.5357G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262648.8:c.207G>C MANE Select	ENSP00000262648.3:p.Gln69His
ENST00000262648.7:c.207G>C	ENSP00000262648.3:p.Gln69His
ENST00000619786.1:c.204G>C	ENSP00000478734.1:p.Gln68His
NM_000216.2:c.207G>C	NP_000207.2:p.Gln69His
XM_005274501.3:c.207G>C	XP_005274558.1:p.Gln69His
NM_000216.3:c.207G>C	NP_000207.2:p.Gln69His
XM_005274501.4:c.207G>C	XP_005274558.1:p.Gln69His
NM_000216.4:c.207G>C MANE Select	NP_000207.2:p.Gln69His