Canonical Allele Identifier: CA412023857

Gene: ANOS1

Linked Data

• gnomAD v4: X-8587816-G-A
• MyVariant Identifiers: chrX:g.8555857G>A (hg19) ; chrX:g.8587816G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.8587816G>A , CM000685.2:g.8587816G>A	GRCh38
NC_000023.10:g.8555857G>A , CM000685.1:g.8555857G>A	GRCh37
NC_000023.9:g.8515857G>A	NCBI36
NG_007088.1:g.149371C>T
NG_007088.2:g.149371C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262648.8:c.704C>T MANE Select	ENSP00000262648.3:p.Thr235Ile
ENST00000262648.7:c.704C>T	ENSP00000262648.3:p.Thr235Ile
ENST00000619786.1:c.701C>T	ENSP00000478734.1:p.Thr234Ile
NM_000216.2:c.704C>T	NP_000207.2:p.Thr235Ile
XM_005274501.3:c.704C>T	XP_005274558.1:p.Thr235Ile
NM_000216.3:c.704C>T	NP_000207.2:p.Thr235Ile
XM_005274501.4:c.704C>T	XP_005274558.1:p.Thr235Ile
NM_000216.4:c.704C>T MANE Select	NP_000207.2:p.Thr235Ile