Canonical Allele Identifier: CA2621468979

Gene: HPD TIALD

Linked Data

• gnomAD v4: 12-121857447-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121857447T>G , CM000674.2:g.121857447T>G	GRCh38
NC_000012.11:g.122295353T>G , CM000674.1:g.122295353T>G	GRCh37
NC_000012.10:g.120779736T>G	NCBI36
NG_016461.1:g.36165A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000289004.8:c.94-15A>C (HPD) MANE Select	ENSP00000289004.4:n.94-15A>C
ENST00000535114.1:n.435A>C (HPD)
ENST00000542159.2:n.137A>C (HPD)
ENST00000543163.5:c.-24-15A>C (HPD)	ENSP00000441677.1:n.-24-15A>C
NM_001171993.1:c.-24-15A>C (HPD)	NP_001165464.1:n.-24-15A>C
NM_002150.2:c.94-15A>C (HPD)	NP_002141.1:n.94-15A>C
XR_002957437.1:n.324-172T>G (TIALD)
NM_002150.3:c.94-15A>C (HPD) MANE Select	NP_002141.2:n.94-15A>C
NM_001171993.2:c.-24-15A>C (HPD)	NP_001165464.1:n.-24-15A>C