Canonical Allele Identifier: CA412024332
Gene: ANOS1 HGNC NCBI

Linked Data

gnomAD v4: X-8731868-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.8731868G>C , CM000685.2:g.8731868G>C GRCh38
NC_000023.10:g.8699909G>C , CM000685.1:g.8699909G>C GRCh37
NC_000023.9:g.8659909G>C NCBI36
NG_007088.1:g.5319C>G
NG_007088.2:g.5319C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262648.8:c.169C>G MANE Select ENSP00000262648.3:p.Gln57Glu
ENST00000262648.7:c.169C>G ENSP00000262648.3:p.Gln57Glu
ENST00000619786.1:c.166C>G ENSP00000478734.1:p.Gln56Glu
NM_000216.2:c.169C>G NP_000207.2:p.Gln57Glu
XM_005274501.3:c.169C>G XP_005274558.1:p.Gln57Glu
NM_000216.3:c.169C>G NP_000207.2:p.Gln57Glu
XM_005274501.4:c.169C>G XP_005274558.1:p.Gln57Glu
NM_000216.4:c.169C>G MANE Select NP_000207.2:p.Gln57Glu