Canonical Allele Identifier: CA326499274
Gene: ANOS1 HGNC NCBI

Linked Data

dbSNP Id: rs759473461
gnomAD v3: X-8732180-C-A
gnomAD v4: X-8732180-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.8732180C>A , CM000685.2:g.8732180C>A GRCh38
NC_000023.10:g.8700221C>A , CM000685.1:g.8700221C>A GRCh37
NC_000023.9:g.8660221C>A NCBI36
NG_007088.1:g.5007G>T
NG_007088.2:g.5007G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262648.7:c.-144G>T ENSP00000262648.3:n.-144G>T
ENST00000619786.1:c.-144G>T ENSP00000478734.1:n.-144G>T
NM_000216.2:c.-144G>T NP_000207.2:n.-144G>T
NM_000216.3:c.-144G>T NP_000207.2:n.-144G>T