Canonical Allele Identifier: CA412024495
Gene: ANOS1 HGNC NCBI

Linked Data

gnomAD v4: X-8731932-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.8731932C>A , CM000685.2:g.8731932C>A GRCh38
NC_000023.10:g.8699973C>A , CM000685.1:g.8699973C>A GRCh37
NC_000023.9:g.8659973C>A NCBI36
NG_007088.1:g.5255G>T
NG_007088.2:g.5255G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262648.8:c.105G>T MANE Select ENSP00000262648.3:p.Leu35=
ENST00000262648.7:c.105G>T ENSP00000262648.3:p.Leu35=
ENST00000619786.1:c.103G>T ENSP00000478734.1:p.Gly35Ter
NM_000216.2:c.105G>T NP_000207.2:p.Leu35=
XM_005274501.3:c.105G>T XP_005274558.1:p.Leu35=
NM_000216.3:c.105G>T NP_000207.2:p.Leu35=
XM_005274501.4:c.105G>T XP_005274558.1:p.Leu35=
NM_000216.4:c.105G>T MANE Select NP_000207.2:p.Leu35=