Canonical Allele Identifier: CA2068102575

Gene: HPD TIALD

Linked Data

• dbSNP Id: rs1224775425
• gnomAD v4: 12-121857465-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121857465G>A , CM000674.2:g.121857465G>A	GRCh38
NC_000012.11:g.122295371G>A , CM000674.1:g.122295371G>A	GRCh37
NC_000012.10:g.120779754G>A	NCBI36
NG_016461.1:g.36147C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000289004.8:c.94-33C>T (HPD) MANE Select	ENSP00000289004.4:n.94-33C>T
ENST00000535114.1:n.417C>T (HPD)
ENST00000542159.2:n.119C>T (HPD)
ENST00000543163.5:c.-24-33C>T (HPD)	ENSP00000441677.1:n.-24-33C>T
NM_001171993.1:c.-24-33C>T (HPD)	NP_001165464.1:n.-24-33C>T
NM_002150.2:c.94-33C>T (HPD)	NP_002141.1:n.94-33C>T
XR_002957437.1:n.324-154G>A (TIALD)
NM_002150.3:c.94-33C>T (HPD) MANE Select	NP_002141.2:n.94-33C>T
NM_001171993.2:c.-24-33C>T (HPD)	NP_001165464.1:n.-24-33C>T