Canonical Allele Identifier: CA879152642
Gene: ANOS1 HGNC NCBI

Linked Data

dbSNP Id: rs1053945433
gnomAD v3: X-8587734-G-C
gnomAD v4: X-8587734-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.8587734G>C , CM000685.2:g.8587734G>C GRCh38
NC_000023.10:g.8555775G>C , CM000685.1:g.8555775G>C GRCh37
NC_000023.9:g.8515775G>C NCBI36
NG_007088.1:g.149453C>G
NG_007088.2:g.149453C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000262648.8:c.726+60C>G MANE Select ENSP00000262648.3:n.726+60C>G
ENST00000262648.7:c.726+60C>G ENSP00000262648.3:n.726+60C>G
ENST00000619786.1:c.723+60C>G ENSP00000478734.1:n.723+60C>G
NM_000216.2:c.726+60C>G NP_000207.2:n.726+60C>G
XM_005274501.3:c.726+60C>G XP_005274558.1:n.726+60C>G
NM_000216.3:c.726+60C>G NP_000207.2:n.726+60C>G
XM_005274501.4:c.726+60C>G XP_005274558.1:n.726+60C>G
NM_000216.4:c.726+60C>G MANE Select NP_000207.2:n.726+60C>G