Canonical Allele Identifier: CA2693054615
Gene: ANOS1 HGNC NCBI

Linked Data

gnomAD v4: X-8732086-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.8732086C>G , CM000685.2:g.8732086C>G GRCh38
NC_000023.10:g.8700127C>G , CM000685.1:g.8700127C>G GRCh37
NC_000023.9:g.8660127C>G NCBI36
NG_007088.1:g.5101G>C
NG_007088.2:g.5101G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262648.8:c.-50G>C MANE Select ENSP00000262648.3:n.-50G>C
ENST00000262648.7:c.-50G>C ENSP00000262648.3:n.-50G>C
ENST00000619786.1:c.-50G>C ENSP00000478734.1:n.-50G>C
NM_000216.2:c.-50G>C NP_000207.2:n.-50G>C
XM_005274501.3:c.-50G>C XP_005274558.1:n.-50G>C
NM_000216.3:c.-50G>C NP_000207.2:n.-50G>C
XM_005274501.4:c.-50G>C XP_005274558.1:n.-50G>C
NM_000216.4:c.-50G>C MANE Select NP_000207.2:n.-50G>C