Canonical Allele Identifier: CA2158473192

Gene: HHIPL1

Linked Data

• dbSNP Id: rs2055326453

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.99609467C>T , CM000676.2:g.99609467C>T	GRCh38
NC_000014.8:g.100075804C>T , CM000676.1:g.100075804C>T	GRCh37
NC_000014.7:g.99145557C>T	NCBI36
NG_051108.1:g.9992C>T

Transcript Alleles

HGVS	Amino-acid change
XM_006720277.2:c.-199+4852C>T	XP_006720340.1:n.-199+4852C>T
XM_011537236.1:c.-287+4852C>T	XP_011535538.1:n.-287+4852C>T
NM_001329411.1:c.-287+4852C>T	NP_001316340.1:n.-287+4852C>T
XM_006720277.3:c.-199+4852C>T	XP_006720340.1:n.-199+4852C>T
XM_011537236.2:c.-287+4852C>T	XP_011535538.1:n.-287+4852C>T
NM_001329411.2:c.-287+4852C>T	NP_001316340.1:n.-287+4852C>T