Canonical Allele Identifier: CA412024280
Gene: ANOS1 HGNC NCBI

Linked Data

gnomAD v4: X-8731844-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.8731844A>G , CM000685.2:g.8731844A>G GRCh38
NC_000023.10:g.8699885A>G , CM000685.1:g.8699885A>G GRCh37
NC_000023.9:g.8659885A>G NCBI36
NG_007088.1:g.5343T>C
NG_007088.2:g.5343T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262648.8:c.193T>C MANE Select ENSP00000262648.3:p.Phe65Leu
ENST00000262648.7:c.193T>C ENSP00000262648.3:p.Phe65Leu
ENST00000619786.1:c.190T>C ENSP00000478734.1:p.Phe64Leu
NM_000216.2:c.193T>C NP_000207.2:p.Phe65Leu
XM_005274501.3:c.193T>C XP_005274558.1:p.Phe65Leu
NM_000216.3:c.193T>C NP_000207.2:p.Phe65Leu
XM_005274501.4:c.193T>C XP_005274558.1:p.Phe65Leu
NM_000216.4:c.193T>C MANE Select NP_000207.2:p.Phe65Leu