Canonical Allele Identifier: CA515172465
Gene: ANOS1 HGNC NCBI

Linked Data

dbSNP Id: rs1384725368
gnomAD v3: X-8731884-G-A
gnomAD v4: X-8731884-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.8731884G>A , CM000685.2:g.8731884G>A GRCh38
NC_000023.10:g.8699925G>A , CM000685.1:g.8699925G>A GRCh37
NC_000023.9:g.8659925G>A NCBI36
NG_007088.1:g.5303C>T
NG_007088.2:g.5303C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262648.8:c.153C>T MANE Select ENSP00000262648.3:p.Ser51=
ENST00000262648.7:c.153C>T ENSP00000262648.3:p.Ser51=
ENST00000619786.1:c.150C>T ENSP00000478734.1:p.Ser50=
NM_000216.2:c.153C>T NP_000207.2:p.Ser51=
XM_005274501.3:c.153C>T XP_005274558.1:p.Ser51=
NM_000216.3:c.153C>T NP_000207.2:p.Ser51=
XM_005274501.4:c.153C>T XP_005274558.1:p.Ser51=
NM_000216.4:c.153C>T MANE Select NP_000207.2:p.Ser51=