Canonical Allele Identifier: CA412024243
Gene: ANOS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2025220
ClinVar RCV Id: RCV002852991

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