Canonical Allele Identifier: CA412023864
Gene: ANOS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.8587820C>A , CM000685.2:g.8587820C>A GRCh38
NC_000023.10:g.8555861C>A , CM000685.1:g.8555861C>A GRCh37
NC_000023.9:g.8515861C>A NCBI36
NG_007088.1:g.149367G>T
NG_007088.2:g.149367G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000262648.8:c.700G>T MANE Select ENSP00000262648.3:p.Ala234Ser
ENST00000262648.7:c.700G>T ENSP00000262648.3:p.Ala234Ser
ENST00000619786.1:c.697G>T ENSP00000478734.1:p.Ala233Ser
NM_000216.2:c.700G>T NP_000207.2:p.Ala234Ser
XM_005274501.3:c.700G>T XP_005274558.1:p.Ala234Ser
NM_000216.3:c.700G>T NP_000207.2:p.Ala234Ser
XM_005274501.4:c.700G>T XP_005274558.1:p.Ala234Ser
NM_000216.4:c.700G>T MANE Select NP_000207.2:p.Ala234Ser