Canonical Allele Identifier: CA10343765
Gene: ANOS1 HGNC NCBI

Linked Data

dbSNP Id: rs767541038
gnomAD v2: X-8555853-G-A
gnomAD v3: X-8587812-G-A
gnomAD v4: X-8587812-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.8587812G>A , CM000685.2:g.8587812G>A GRCh38
NC_000023.10:g.8555853G>A , CM000685.1:g.8555853G>A GRCh37
NC_000023.9:g.8515853G>A NCBI36
NG_007088.1:g.149375C>T
NG_007088.2:g.149375C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000262648.8:c.708C>T MANE Select ENSP00000262648.3:p.His236=
ENST00000262648.7:c.708C>T ENSP00000262648.3:p.His236=
ENST00000619786.1:c.705C>T ENSP00000478734.1:p.His235=
NM_000216.2:c.708C>T NP_000207.2:p.His236=
XM_005274501.3:c.708C>T XP_005274558.1:p.His236=
NM_000216.3:c.708C>T NP_000207.2:p.His236=
XM_005274501.4:c.708C>T XP_005274558.1:p.His236=
NM_000216.4:c.708C>T MANE Select NP_000207.2:p.His236=