Canonical Allele Identifier: CA2693054646
Gene: ANOS1 HGNC NCBI

Linked Data

gnomAD v4: X-8732107-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.8732107C>T , CM000685.2:g.8732107C>T GRCh38
NC_000023.10:g.8700148C>T , CM000685.1:g.8700148C>T GRCh37
NC_000023.9:g.8660148C>T NCBI36
NG_007088.1:g.5080G>A
NG_007088.2:g.5080G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262648.8:c.-71G>A MANE Select ENSP00000262648.3:n.-71G>A
ENST00000262648.7:c.-71G>A ENSP00000262648.3:n.-71G>A
ENST00000619786.1:c.-71G>A ENSP00000478734.1:n.-71G>A
NM_000216.2:c.-71G>A NP_000207.2:n.-71G>A
XM_005274501.3:c.-71G>A XP_005274558.1:n.-71G>A
NM_000216.3:c.-71G>A NP_000207.2:n.-71G>A
XM_005274501.4:c.-71G>A XP_005274558.1:n.-71G>A
NM_000216.4:c.-71G>A MANE Select NP_000207.2:n.-71G>A