Canonical Allele Identifier: CA2693054593
Gene: ANOS1 HGNC NCBI

Linked Data

gnomAD v4: X-8732069-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.8732069G>A , CM000685.2:g.8732069G>A GRCh38
NC_000023.10:g.8700110G>A , CM000685.1:g.8700110G>A GRCh37
NC_000023.9:g.8660110G>A NCBI36
NG_007088.1:g.5118C>T
NG_007088.2:g.5118C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262648.8:c.-33C>T MANE Select ENSP00000262648.3:n.-33C>T
ENST00000262648.7:c.-33C>T ENSP00000262648.3:n.-33C>T
ENST00000619786.1:c.-33C>T ENSP00000478734.1:n.-33C>T
NM_000216.2:c.-33C>T NP_000207.2:n.-33C>T
XM_005274501.3:c.-33C>T XP_005274558.1:n.-33C>T
NM_000216.3:c.-33C>T NP_000207.2:n.-33C>T
XM_005274501.4:c.-33C>T XP_005274558.1:n.-33C>T
NM_000216.4:c.-33C>T MANE Select NP_000207.2:n.-33C>T