Canonical Allele Identifier: CA412024565
Gene: ANOS1 HGNC NCBI

Linked Data

gnomAD v4: X-8731957-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.8731957G>A , CM000685.2:g.8731957G>A GRCh38
NC_000023.10:g.8699998G>A , CM000685.1:g.8699998G>A GRCh37
NC_000023.9:g.8659998G>A NCBI36
NG_007088.1:g.5230C>T
NG_007088.2:g.5230C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262648.8:c.80C>T MANE Select ENSP00000262648.3:p.Pro27Leu
ENST00000262648.7:c.80C>T ENSP00000262648.3:p.Pro27Leu
ENST00000619786.1:c.79C>T ENSP00000478734.1:p.Pro27Ser
NM_000216.2:c.80C>T NP_000207.2:p.Pro27Leu
XM_005274501.3:c.80C>T XP_005274558.1:p.Pro27Leu
NM_000216.3:c.80C>T NP_000207.2:p.Pro27Leu
XM_005274501.4:c.80C>T XP_005274558.1:p.Pro27Leu
NM_000216.4:c.80C>T MANE Select NP_000207.2:p.Pro27Leu