Canonical Allele Identifier: CA13949879
Gene: HHIPL1 HGNC NCBI

Linked Data

dbSNP Id: rs4905865
gnomAD v2: 14-100076059-T-G
gnomAD v3: 14-99609722-T-G
gnomAD v4: 14-99609722-T-G
MyVariant Identifiers: chr14:g.100076059T>G (hg19) chr14:g.99609722T>G (hg38)
Allelic Epigenome: Alellic Epigenome (raw data)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.99609722T>G , CM000676.2:g.99609722T>G GRCh38
NC_000014.8:g.100076059T>G , CM000676.1:g.100076059T>G GRCh37
NC_000014.7:g.99145812T>G NCBI36
NG_051108.1:g.10247T>G

Transcript Alleles

HGVS Amino-acid change
XM_006720277.2:c.-199+5107T>G XP_006720340.1:n.-199+5107T>G
XM_011537236.1:c.-287+5107T>G XP_011535538.1:n.-287+5107T>G
NM_001329411.1:c.-287+5107T>G NP_001316340.1:n.-287+5107T>G
XM_006720277.3:c.-199+5107T>G XP_006720340.1:n.-199+5107T>G
XM_011537236.2:c.-287+5107T>G XP_011535538.1:n.-287+5107T>G
NM_001329411.2:c.-287+5107T>G NP_001316340.1:n.-287+5107T>G
Search 100 bp 5'
Search 100 bp 3'