Canonical Allele Identifier: CA254972
Community Standard Title: NM_000216.4(ANOS1):c.1187C>T (p.Ser396Leu)
Gene: ANOS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.8568252G>A , CM000685.2:g.8568252G>A GRCh38
NC_000023.10:g.8536293G>A , CM000685.1:g.8536293G>A GRCh37
NC_000023.9:g.8496293G>A NCBI36
NG_007088.1:g.168935C>T
NG_007088.2:g.168935C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000216.4:c.1187C>T MANE Select NP_000207.2:p.Ser396Leu
ENST00000262648.8:c.1187C>T MANE Select ENSP00000262648.3:p.Ser396Leu
NM_000216.2:c.1187C>T NP_000207.2:p.Ser396Leu
NM_000216.3:c.1187C>T NP_000207.2:p.Ser396Leu
ENST00000262648.7:c.1187C>T ENSP00000262648.3:p.Ser396Leu
ENST00000488294.1:n.277C>T
ENST00000619786.1:c.1184C>T ENSP00000478734.1:p.Ser395Leu
XM_005274501.3:c.1187C>T XP_005274558.1:p.Ser396Leu
XM_005274501.4:c.1187C>T XP_005274558.1:p.Ser396Leu
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