Canonical Allele Identifier: CA10343854
Gene: ANOS1 HGNC NCBI

Linked Data

dbSNP Id: rs756923731
ExAC: X:8699854 C / T
gnomAD v2: X-8699854-C-T
gnomAD v4: X-8731813-C-T
MyVariant Identifiers: chrX:g.8699854C>T (hg19) chrX:g.8731813C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.8731813C>T , CM000685.2:g.8731813C>T GRCh38
NC_000023.10:g.8699854C>T , CM000685.1:g.8699854C>T GRCh37
NC_000023.9:g.8659854C>T NCBI36
NG_007088.1:g.5374G>A
NG_007088.2:g.5374G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262648.8:c.207+17G>A MANE Select ENSP00000262648.3:n.207+17G>A
ENST00000262648.7:c.207+17G>A ENSP00000262648.3:n.207+17G>A
ENST00000619786.1:c.204+17G>A ENSP00000478734.1:n.204+17G>A
NM_000216.2:c.207+17G>A NP_000207.2:n.207+17G>A
XM_005274501.3:c.207+17G>A XP_005274558.1:n.207+17G>A
NM_000216.3:c.207+17G>A NP_000207.2:n.207+17G>A
XM_005274501.4:c.207+17G>A XP_005274558.1:n.207+17G>A
NM_000216.4:c.207+17G>A MANE Select NP_000207.2:n.207+17G>A
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