Canonical Allele Identifier: CA2693054750
Gene: ANOS1 HGNC NCBI

Linked Data

gnomAD v4: X-8732181-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.8732181G>T , CM000685.2:g.8732181G>T GRCh38
NC_000023.10:g.8700222G>T , CM000685.1:g.8700222G>T GRCh37
NC_000023.9:g.8660222G>T NCBI36
NG_007088.1:g.5006C>A
NG_007088.2:g.5006C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262648.7:c.-145C>A ENSP00000262648.3:n.-145C>A
ENST00000619786.1:c.-145C>A ENSP00000478734.1:n.-145C>A
NM_000216.2:c.-145C>A NP_000207.2:n.-145C>A
NM_000216.3:c.-145C>A NP_000207.2:n.-145C>A