Canonical Allele Identifier: CA2572082804
Gene: HHIPL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.99609570A>G , CM000676.2:g.99609570A>G GRCh38
NC_000014.8:g.100075907A>G , CM000676.1:g.100075907A>G GRCh37
NC_000014.7:g.99145660A>G NCBI36
NG_051108.1:g.10095A>G

Transcript Alleles

HGVS Amino-acid Change
XM_006720277.2:c.-199+4955A>G XP_006720340.1:n.-199+4955A>G
XM_011537236.1:c.-287+4955A>G XP_011535538.1:n.-287+4955A>G
NM_001329411.1:c.-287+4955A>G NP_001316340.1:n.-287+4955A>G
XM_006720277.3:c.-199+4955A>G XP_006720340.1:n.-199+4955A>G
XM_011537236.2:c.-287+4955A>G XP_011535538.1:n.-287+4955A>G
NM_001329411.2:c.-287+4955A>G NP_001316340.1:n.-287+4955A>G