Canonical Allele Identifier: CA412023865
Gene: ANOS1 HGNC NCBI

Linked Data

gnomAD v4: X-8587820-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.8587820C>T , CM000685.2:g.8587820C>T GRCh38
NC_000023.10:g.8555861C>T , CM000685.1:g.8555861C>T GRCh37
NC_000023.9:g.8515861C>T NCBI36
NG_007088.1:g.149367G>A
NG_007088.2:g.149367G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000262648.8:c.700G>A MANE Select ENSP00000262648.3:p.Ala234Thr
ENST00000262648.7:c.700G>A ENSP00000262648.3:p.Ala234Thr
ENST00000619786.1:c.697G>A ENSP00000478734.1:p.Ala233Thr
NM_000216.2:c.700G>A NP_000207.2:p.Ala234Thr
XM_005274501.3:c.700G>A XP_005274558.1:p.Ala234Thr
NM_000216.3:c.700G>A NP_000207.2:p.Ala234Thr
XM_005274501.4:c.700G>A XP_005274558.1:p.Ala234Thr
NM_000216.4:c.700G>A MANE Select NP_000207.2:p.Ala234Thr