Canonical Allele Identifier: CA1130929377

Gene: ANOS1

Linked Data

• dbSNP Id: rs1932978569
• gnomAD v3: X-8731656-C-T
• gnomAD v4: X-8731656-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.8731656C>T , CM000685.2:g.8731656C>T	GRCh38
NC_000023.10:g.8699697C>T , CM000685.1:g.8699697C>T	GRCh37
NC_000023.9:g.8659697C>T	NCBI36
NG_007088.1:g.5531G>A
NG_007088.2:g.5531G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262648.8:c.207+174G>A MANE Select	ENSP00000262648.3:n.207+174G>A
ENST00000262648.7:c.207+174G>A	ENSP00000262648.3:n.207+174G>A
ENST00000619786.1:c.204+174G>A	ENSP00000478734.1:n.204+174G>A
NM_000216.2:c.207+174G>A	NP_000207.2:n.207+174G>A
XM_005274501.3:c.207+174G>A	XP_005274558.1:n.207+174G>A
NM_000216.3:c.207+174G>A	NP_000207.2:n.207+174G>A
XM_005274501.4:c.207+174G>A	XP_005274558.1:n.207+174G>A
NM_000216.4:c.207+174G>A MANE Select	NP_000207.2:n.207+174G>A