Canonical Allele Identifier: CA412024330
Gene: ANOS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.8731867T>A , CM000685.2:g.8731867T>A GRCh38
NC_000023.10:g.8699908T>A , CM000685.1:g.8699908T>A GRCh37
NC_000023.9:g.8659908T>A NCBI36
NG_007088.1:g.5320A>T
NG_007088.2:g.5320A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262648.8:c.170A>T MANE Select ENSP00000262648.3:p.Gln57Leu
ENST00000262648.7:c.170A>T ENSP00000262648.3:p.Gln57Leu
ENST00000619786.1:c.167A>T ENSP00000478734.1:p.Gln56Leu
NM_000216.2:c.170A>T NP_000207.2:p.Gln57Leu
XM_005274501.3:c.170A>T XP_005274558.1:p.Gln57Leu
NM_000216.3:c.170A>T NP_000207.2:p.Gln57Leu
XM_005274501.4:c.170A>T XP_005274558.1:p.Gln57Leu
NM_000216.4:c.170A>T MANE Select NP_000207.2:p.Gln57Leu