Canonical Allele Identifier: CA2693054441

Gene: ANOS1

Linked Data

• gnomAD v4: X-8731719-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.8731719C>A , CM000685.2:g.8731719C>A	GRCh38
NC_000023.10:g.8699760C>A , CM000685.1:g.8699760C>A	GRCh37
NC_000023.9:g.8659760C>A	NCBI36
NG_007088.1:g.5468G>T
NG_007088.2:g.5468G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262648.8:c.207+111G>T MANE Select	ENSP00000262648.3:n.207+111G>T
ENST00000262648.7:c.207+111G>T	ENSP00000262648.3:n.207+111G>T
ENST00000619786.1:c.204+111G>T	ENSP00000478734.1:n.204+111G>T
NM_000216.2:c.207+111G>T	NP_000207.2:n.207+111G>T
XM_005274501.3:c.207+111G>T	XP_005274558.1:n.207+111G>T
NM_000216.3:c.207+111G>T	NP_000207.2:n.207+111G>T
XM_005274501.4:c.207+111G>T	XP_005274558.1:n.207+111G>T
NM_000216.4:c.207+111G>T MANE Select	NP_000207.2:n.207+111G>T