Canonical Allele Identifier: CA515172460
Gene: ANOS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.8699918G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.8731877G>A , CM000685.2:g.8731877G>A GRCh38
NC_000023.10:g.8699918G>A , CM000685.1:g.8699918G>A GRCh37
NC_000023.9:g.8659918G>A NCBI36
NG_007088.1:g.5310C>T
NG_007088.2:g.5310C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262648.8:c.160C>T MANE Select ENSP00000262648.3:p.Leu54=
ENST00000262648.7:c.160C>T ENSP00000262648.3:p.Leu54=
ENST00000619786.1:c.157C>T ENSP00000478734.1:p.Leu53=
NM_000216.2:c.160C>T NP_000207.2:p.Leu54=
XM_005274501.3:c.160C>T XP_005274558.1:p.Leu54=
NM_000216.3:c.160C>T NP_000207.2:p.Leu54=
XM_005274501.4:c.160C>T XP_005274558.1:p.Leu54=
NM_000216.4:c.160C>T MANE Select NP_000207.2:p.Leu54=