Canonical Allele Identifier: CA2797755128

Gene: HPD TIALD

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121857463A>C , CM000674.2:g.121857463A>C	GRCh38
NC_000012.11:g.122295369A>C , CM000674.1:g.122295369A>C	GRCh37
NC_000012.10:g.120779752A>C	NCBI36
NG_016461.1:g.36149T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000289004.8:c.94-31T>G (HPD) MANE Select	ENSP00000289004.4:n.94-31T>G
ENST00000535114.1:n.419T>G (HPD)
ENST00000542159.2:n.121T>G (HPD)
ENST00000543163.5:c.-24-31T>G (HPD)	ENSP00000441677.1:n.-24-31T>G
NM_001171993.1:c.-24-31T>G (HPD)	NP_001165464.1:n.-24-31T>G
NM_002150.2:c.94-31T>G (HPD)	NP_002141.1:n.94-31T>G
XR_002957437.1:n.324-156A>C (TIALD)
NM_002150.3:c.94-31T>G (HPD) MANE Select	NP_002141.2:n.94-31T>G
NM_001171993.2:c.-24-31T>G (HPD)	NP_001165464.1:n.-24-31T>G