Canonical Allele Identifier: CA2621468980

Gene: HPD TIALD

Linked Data

• gnomAD v4: 12-121857448-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121857448G>A , CM000674.2:g.121857448G>A	GRCh38
NC_000012.11:g.122295354G>A , CM000674.1:g.122295354G>A	GRCh37
NC_000012.10:g.120779737G>A	NCBI36
NG_016461.1:g.36164C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000289004.8:c.94-16C>T (HPD) MANE Select	ENSP00000289004.4:n.94-16C>T
ENST00000535114.1:n.434C>T (HPD)
ENST00000542159.2:n.136C>T (HPD)
ENST00000543163.5:c.-24-16C>T (HPD)	ENSP00000441677.1:n.-24-16C>T
NM_001171993.1:c.-24-16C>T (HPD)	NP_001165464.1:n.-24-16C>T
NM_002150.2:c.94-16C>T (HPD)	NP_002141.1:n.94-16C>T
XR_002957437.1:n.324-171G>A (TIALD)
NM_002150.3:c.94-16C>T (HPD) MANE Select	NP_002141.2:n.94-16C>T
NM_001171993.2:c.-24-16C>T (HPD)	NP_001165464.1:n.-24-16C>T