Canonical Allele Identifier: CA266675609

Gene: HHIPL1

Linked Data

• dbSNP Id: rs1002250904
• gnomAD v2: 14-100075915-G-A
• gnomAD v3: 14-99609578-G-A
• gnomAD v4: 14-99609578-G-A
• MyVariant Identifiers: chr14:g.100075915G>A (hg19) ; chr14:g.99609578G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.99609578G>A , CM000676.2:g.99609578G>A	GRCh38
NC_000014.8:g.100075915G>A , CM000676.1:g.100075915G>A	GRCh37
NC_000014.7:g.99145668G>A	NCBI36
NG_051108.1:g.10103G>A

Transcript Alleles

HGVS	Amino-acid Change
XM_006720277.2:c.-199+4963G>A	XP_006720340.1:n.-199+4963G>A
XM_011537236.1:c.-287+4963G>A	XP_011535538.1:n.-287+4963G>A
NM_001329411.1:c.-287+4963G>A	NP_001316340.1:n.-287+4963G>A
XM_006720277.3:c.-199+4963G>A	XP_006720340.1:n.-199+4963G>A
XM_011537236.2:c.-287+4963G>A	XP_011535538.1:n.-287+4963G>A
NM_001329411.2:c.-287+4963G>A	NP_001316340.1:n.-287+4963G>A