Canonical Allele Identifier: CA2693053832
Gene: ANOS1 HGNC NCBI

Linked Data

gnomAD v4: X-8587742-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.8587742G>T , CM000685.2:g.8587742G>T GRCh38
NC_000023.10:g.8555783G>T , CM000685.1:g.8555783G>T GRCh37
NC_000023.9:g.8515783G>T NCBI36
NG_007088.1:g.149445C>A
NG_007088.2:g.149445C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000262648.8:c.726+52C>A MANE Select ENSP00000262648.3:n.726+52C>A
ENST00000262648.7:c.726+52C>A ENSP00000262648.3:n.726+52C>A
ENST00000619786.1:c.723+52C>A ENSP00000478734.1:n.723+52C>A
NM_000216.2:c.726+52C>A NP_000207.2:n.726+52C>A
XM_005274501.3:c.726+52C>A XP_005274558.1:n.726+52C>A
NM_000216.3:c.726+52C>A NP_000207.2:n.726+52C>A
XM_005274501.4:c.726+52C>A XP_005274558.1:n.726+52C>A
NM_000216.4:c.726+52C>A MANE Select NP_000207.2:n.726+52C>A
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