Canonical Allele Identifier: CA412024646

Gene: ANOS1

Linked Data

• gnomAD v4: X-8731990-A-T
• MyVariant Identifiers: chrX:g.8700031A>T (hg19) ; chrX:g.8731990A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.8731990A>T , CM000685.2:g.8731990A>T	GRCh38
NC_000023.10:g.8700031A>T , CM000685.1:g.8700031A>T	GRCh37
NC_000023.9:g.8660031A>T	NCBI36
NG_007088.1:g.5197T>A
NG_007088.2:g.5197T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262648.8:c.47T>A MANE Select	ENSP00000262648.3:p.Leu16Gln
ENST00000262648.7:c.47T>A	ENSP00000262648.3:p.Leu16Gln
ENST00000619786.1:c.47T>A	ENSP00000478734.1:p.Leu16Gln
NM_000216.2:c.47T>A	NP_000207.2:p.Leu16Gln
XM_005274501.3:c.47T>A	XP_005274558.1:p.Leu16Gln
NM_000216.3:c.47T>A	NP_000207.2:p.Leu16Gln
XM_005274501.4:c.47T>A	XP_005274558.1:p.Leu16Gln
NM_000216.4:c.47T>A MANE Select	NP_000207.2:p.Leu16Gln