Canonical Allele Identifier: CA2158473246
Gene: HHIPL1 HGNC NCBI

Linked Data

dbSNP Id: rs2055327491
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.99609584A>G , CM000676.2:g.99609584A>G GRCh38
NC_000014.8:g.100075921A>G , CM000676.1:g.100075921A>G GRCh37
NC_000014.7:g.99145674A>G NCBI36
NG_051108.1:g.10109A>G

Transcript Alleles

HGVS Amino-acid Change
XM_006720277.2:c.-199+4969A>G XP_006720340.1:n.-199+4969A>G
XM_011537236.1:c.-287+4969A>G XP_011535538.1:n.-287+4969A>G
NM_001329411.1:c.-287+4969A>G NP_001316340.1:n.-287+4969A>G
XM_006720277.3:c.-199+4969A>G XP_006720340.1:n.-199+4969A>G
XM_011537236.2:c.-287+4969A>G XP_011535538.1:n.-287+4969A>G
NM_001329411.2:c.-287+4969A>G NP_001316340.1:n.-287+4969A>G
Search 100 bp 5'
Search 100 bp 3'