Canonical Allele Identifier: CA342320594
Community Standard Title: NM_032132.5(HORMAD1):c.896A>G (p.Asp299Gly)
Gene: HORMAD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.150704170T>C , CM000663.2:g.150704170T>C GRCh38
NC_000001.10:g.150676646T>C , CM000663.1:g.150676646T>C GRCh37
NC_000001.9:g.148943270T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_032132.5:c.896A>G MANE Select NP_115508.2:p.Asp299Gly
ENST00000361824.7:c.896A>G MANE Select ENSP00000355167.2:p.Asp299Gly
NM_001199829.1:c.875A>G NP_001186758.1:p.Asp292Gly
NM_001199829.2:c.875A>G NP_001186758.1:p.Asp292Gly
NM_032132.4:c.896A>G NP_115508.2:p.Asp299Gly
ENST00000322343.11:c.875A>G ENSP00000326489.7:p.Asp292Gly
ENST00000361824.6:c.896A>G ENSP00000355167.2:p.Asp299Gly
ENST00000368995.8:c.656A>G ENSP00000357991.4:p.Asp219Gly
ENST00000470397.5:n.56A>G
ENST00000486497.1:n.363A>G
XM_006711569.2:c.896A>G XP_006711632.1:p.Asp299Gly
XM_006711570.2:c.683A>G XP_006711633.1:p.Asp228Gly
XM_006711571.2:c.662A>G XP_006711634.1:p.Asp221Gly
XM_011510053.1:c.896A>G XP_011508355.1:p.Asp299Gly
XM_011510054.1:c.896A>G XP_011508356.1:p.Asp299Gly
XM_011510054.2:c.896A>G XP_011508356.1:p.Asp299Gly
XM_011510055.1:c.653A>G XP_011508357.1:p.Asp218Gly
XM_011510056.1:c.599A>G XP_011508358.1:p.Asp200Gly