Canonical Allele Identifier: CA412024377
Gene: ANOS1 HGNC NCBI

Linked Data

gnomAD v4: X-8731889-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.8731889C>T , CM000685.2:g.8731889C>T GRCh38
NC_000023.10:g.8699930C>T , CM000685.1:g.8699930C>T GRCh37
NC_000023.9:g.8659930C>T NCBI36
NG_007088.1:g.5298G>A
NG_007088.2:g.5298G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262648.8:c.148G>A MANE Select ENSP00000262648.3:p.Ala50Thr
ENST00000262648.7:c.148G>A ENSP00000262648.3:p.Ala50Thr
ENST00000619786.1:c.145G>A ENSP00000478734.1:p.Ala49Thr
NM_000216.2:c.148G>A NP_000207.2:p.Ala50Thr
XM_005274501.3:c.148G>A XP_005274558.1:p.Ala50Thr
NM_000216.3:c.148G>A NP_000207.2:p.Ala50Thr
XM_005274501.4:c.148G>A XP_005274558.1:p.Ala50Thr
NM_000216.4:c.148G>A MANE Select NP_000207.2:p.Ala50Thr