Canonical Allele Identifier: CA412023858
Gene: ANOS1 HGNC NCBI

Linked Data

gnomAD v4: X-8587817-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.8587817T>A , CM000685.2:g.8587817T>A GRCh38
NC_000023.10:g.8555858T>A , CM000685.1:g.8555858T>A GRCh37
NC_000023.9:g.8515858T>A NCBI36
NG_007088.1:g.149370A>T
NG_007088.2:g.149370A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000262648.8:c.703A>T MANE Select ENSP00000262648.3:p.Thr235Ser
ENST00000262648.7:c.703A>T ENSP00000262648.3:p.Thr235Ser
ENST00000619786.1:c.700A>T ENSP00000478734.1:p.Thr234Ser
NM_000216.2:c.703A>T NP_000207.2:p.Thr235Ser
XM_005274501.3:c.703A>T XP_005274558.1:p.Thr235Ser
NM_000216.3:c.703A>T NP_000207.2:p.Thr235Ser
XM_005274501.4:c.703A>T XP_005274558.1:p.Thr235Ser
NM_000216.4:c.703A>T MANE Select NP_000207.2:p.Thr235Ser