Canonical Allele Identifier: CA412024585
Gene: ANOS1 HGNC NCBI

Linked Data

dbSNP Id: rs1932984858
gnomAD v3: X-8731964-C-G
gnomAD v4: X-8731964-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.8731964C>G , CM000685.2:g.8731964C>G GRCh38
NC_000023.10:g.8700005C>G , CM000685.1:g.8700005C>G GRCh37
NC_000023.9:g.8660005C>G NCBI36
NG_007088.1:g.5223G>C
NG_007088.2:g.5223G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262648.8:c.73G>C MANE Select ENSP00000262648.3:p.Ala25Pro
ENST00000262648.7:c.73G>C ENSP00000262648.3:p.Ala25Pro
ENST00000619786.1:c.72G>C ENSP00000478734.1:p.Arg24=
NM_000216.2:c.73G>C NP_000207.2:p.Ala25Pro
XM_005274501.3:c.73G>C XP_005274558.1:p.Ala25Pro
NM_000216.3:c.73G>C NP_000207.2:p.Ala25Pro
XM_005274501.4:c.73G>C XP_005274558.1:p.Ala25Pro
NM_000216.4:c.73G>C MANE Select NP_000207.2:p.Ala25Pro