Canonical Allele Identifier: CA412024581
Gene: ANOS1 HGNC NCBI

Linked Data

dbSNP Id: rs1312534685
gnomAD v2: X-8700004-G-C
gnomAD v3: X-8731963-G-C
gnomAD v4: X-8731963-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.8731963G>C , CM000685.2:g.8731963G>C GRCh38
NC_000023.10:g.8700004G>C , CM000685.1:g.8700004G>C GRCh37
NC_000023.9:g.8660004G>C NCBI36
NG_007088.1:g.5224C>G
NG_007088.2:g.5224C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262648.8:c.74C>G MANE Select ENSP00000262648.3:p.Ala25Gly
ENST00000262648.7:c.74C>G ENSP00000262648.3:p.Ala25Gly
ENST00000619786.1:c.73C>G ENSP00000478734.1:p.Pro25Ala
NM_000216.2:c.74C>G NP_000207.2:p.Ala25Gly
XM_005274501.3:c.74C>G XP_005274558.1:p.Ala25Gly
NM_000216.3:c.74C>G NP_000207.2:p.Ala25Gly
XM_005274501.4:c.74C>G XP_005274558.1:p.Ala25Gly
NM_000216.4:c.74C>G MANE Select NP_000207.2:p.Ala25Gly