Canonical Allele Identifier: CA412024673
Gene: ANOS1 HGNC NCBI

Linked Data

gnomAD v4: X-8732002-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.8732002A>G , CM000685.2:g.8732002A>G GRCh38
NC_000023.10:g.8700043A>G , CM000685.1:g.8700043A>G GRCh37
NC_000023.9:g.8660043A>G NCBI36
NG_007088.1:g.5185T>C
NG_007088.2:g.5185T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262648.8:c.35T>C MANE Select ENSP00000262648.3:p.Leu12Pro
ENST00000262648.7:c.35T>C ENSP00000262648.3:p.Leu12Pro
ENST00000619786.1:c.35T>C ENSP00000478734.1:p.Leu12Pro
NM_000216.2:c.35T>C NP_000207.2:p.Leu12Pro
XM_005274501.3:c.35T>C XP_005274558.1:p.Leu12Pro
NM_000216.3:c.35T>C NP_000207.2:p.Leu12Pro
XM_005274501.4:c.35T>C XP_005274558.1:p.Leu12Pro
NM_000216.4:c.35T>C MANE Select NP_000207.2:p.Leu12Pro