Canonical Allele Identifier: CA16621518
Gene: ANOS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 424064
ClinVar RCV Id: RCV000483000
dbSNP Id: rs1064796777

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.8587940C>A , CM000685.2:g.8587940C>A GRCh38
NC_000023.10:g.8555981C>A , CM000685.1:g.8555981C>A GRCh37
NC_000023.9:g.8515981C>A NCBI36
NG_007088.1:g.149247G>T
NG_007088.2:g.149247G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000262648.8:c.580G>T MANE Select ENSP00000262648.3:p.Glu194Ter
ENST00000262648.7:c.580G>T ENSP00000262648.3:p.Glu194Ter
ENST00000619786.1:c.577G>T ENSP00000478734.1:p.Glu193Ter
NM_000216.2:c.580G>T NP_000207.2:p.Glu194Ter
XM_005274501.3:c.580G>T XP_005274558.1:p.Glu194Ter
NM_000216.3:c.580G>T NP_000207.2:p.Glu194Ter
XM_005274501.4:c.580G>T XP_005274558.1:p.Glu194Ter
NM_000216.4:c.580G>T MANE Select NP_000207.2:p.Glu194Ter