Canonical Allele Identifier: CA10343855
Gene: ANOS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2038027
ClinVar RCV Id: RCV002890409
dbSNP Id: rs756923731
gnomAD v2: X-8699854-C-A
gnomAD v3: X-8731813-C-A
gnomAD v4: X-8731813-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.8731813C>A , CM000685.2:g.8731813C>A GRCh38
NC_000023.10:g.8699854C>A , CM000685.1:g.8699854C>A GRCh37
NC_000023.9:g.8659854C>A NCBI36
NG_007088.1:g.5374G>T
NG_007088.2:g.5374G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262648.8:c.207+17G>T MANE Select ENSP00000262648.3:n.207+17G>T
ENST00000262648.7:c.207+17G>T ENSP00000262648.3:n.207+17G>T
ENST00000619786.1:c.204+17G>T ENSP00000478734.1:n.204+17G>T
NM_000216.2:c.207+17G>T NP_000207.2:n.207+17G>T
XM_005274501.3:c.207+17G>T XP_005274558.1:n.207+17G>T
NM_000216.3:c.207+17G>T NP_000207.2:n.207+17G>T
XM_005274501.4:c.207+17G>T XP_005274558.1:n.207+17G>T
NM_000216.4:c.207+17G>T MANE Select NP_000207.2:n.207+17G>T