Canonical Allele Identifier: CA412024633
Gene: ANOS1 HGNC NCBI

Linked Data

gnomAD v4: X-8731984-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.8731984G>A , CM000685.2:g.8731984G>A GRCh38
NC_000023.10:g.8700025G>A , CM000685.1:g.8700025G>A GRCh37
NC_000023.9:g.8660025G>A NCBI36
NG_007088.1:g.5203C>T
NG_007088.2:g.5203C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262648.8:c.53C>T MANE Select ENSP00000262648.3:p.Ala18Val
ENST00000262648.7:c.53C>T ENSP00000262648.3:p.Ala18Val
ENST00000619786.1:c.53C>T ENSP00000478734.1:p.Ala18Val
NM_000216.2:c.53C>T NP_000207.2:p.Ala18Val
XM_005274501.3:c.53C>T XP_005274558.1:p.Ala18Val
NM_000216.3:c.53C>T NP_000207.2:p.Ala18Val
XM_005274501.4:c.53C>T XP_005274558.1:p.Ala18Val
NM_000216.4:c.53C>T MANE Select NP_000207.2:p.Ala18Val