Canonical Allele Identifier: CA2693053830
Gene: ANOS1 HGNC NCBI

Linked Data

gnomAD v4: X-8587740-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.8587740A>G , CM000685.2:g.8587740A>G GRCh38
NC_000023.10:g.8555781A>G , CM000685.1:g.8555781A>G GRCh37
NC_000023.9:g.8515781A>G NCBI36
NG_007088.1:g.149447T>C
NG_007088.2:g.149447T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000262648.8:c.726+54T>C MANE Select ENSP00000262648.3:n.726+54T>C
ENST00000262648.7:c.726+54T>C ENSP00000262648.3:n.726+54T>C
ENST00000619786.1:c.723+54T>C ENSP00000478734.1:n.723+54T>C
NM_000216.2:c.726+54T>C NP_000207.2:n.726+54T>C
XM_005274501.3:c.726+54T>C XP_005274558.1:n.726+54T>C
NM_000216.3:c.726+54T>C NP_000207.2:n.726+54T>C
XM_005274501.4:c.726+54T>C XP_005274558.1:n.726+54T>C
NM_000216.4:c.726+54T>C MANE Select NP_000207.2:n.726+54T>C
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