Canonical Allele Identifier: CA412024564
Gene: ANOS1 HGNC NCBI

Linked Data

dbSNP Id: rs957612164
gnomAD v3: X-8731956-G-C
gnomAD v4: X-8731956-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.8731956G>C , CM000685.2:g.8731956G>C GRCh38
NC_000023.10:g.8699997G>C , CM000685.1:g.8699997G>C GRCh37
NC_000023.9:g.8659997G>C NCBI36
NG_007088.1:g.5231C>G
NG_007088.2:g.5231C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262648.8:c.81C>G MANE Select ENSP00000262648.3:p.Pro27=
ENST00000262648.7:c.81C>G ENSP00000262648.3:p.Pro27=
ENST00000619786.1:c.80C>G ENSP00000478734.1:p.Pro27Arg
NM_000216.2:c.81C>G NP_000207.2:p.Pro27=
XM_005274501.3:c.81C>G XP_005274558.1:p.Pro27=
NM_000216.3:c.81C>G NP_000207.2:p.Pro27=
XM_005274501.4:c.81C>G XP_005274558.1:p.Pro27=
NM_000216.4:c.81C>G MANE Select NP_000207.2:p.Pro27=