Canonical Allele Identifier: CA2158473187
Gene: HHIPL1 HGNC NCBI

Linked Data

dbSNP Id: rs2055326317

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.99609457C>T , CM000676.2:g.99609457C>T GRCh38
NC_000014.8:g.100075794C>T , CM000676.1:g.100075794C>T GRCh37
NC_000014.7:g.99145547C>T NCBI36
NG_051108.1:g.9982C>T

Transcript Alleles

HGVS Amino-acid change
XM_006720277.2:c.-199+4842C>T XP_006720340.1:n.-199+4842C>T
XM_011537236.1:c.-287+4842C>T XP_011535538.1:n.-287+4842C>T
NM_001329411.1:c.-287+4842C>T NP_001316340.1:n.-287+4842C>T
XM_006720277.3:c.-199+4842C>T XP_006720340.1:n.-199+4842C>T
XM_011537236.2:c.-287+4842C>T XP_011535538.1:n.-287+4842C>T
NM_001329411.2:c.-287+4842C>T NP_001316340.1:n.-287+4842C>T