Canonical Allele Identifier: CA2068102299

Gene: HPD TIALD

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121857345C= , CM000674.2:g.121857345C=	GRCh38
NC_000012.11:g.122295251C= , CM000674.1:g.122295251C=	GRCh37
NC_000012.10:g.120779634C=	NCBI36
NG_016461.1:g.36267G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289004.8:c.181G= (HPD) MANE Select	ENSP00000289004.4:p.Val61=
ENST00000535114.1:n.537G= (HPD)
ENST00000542159.2:n.239G= (HPD)
ENST00000543163.5:c.64G= (HPD)	ENSP00000441677.1:p.Val22=
NM_001171993.1:c.64G= (HPD)	NP_001165464.1:p.Val22=
NM_002150.2:c.181G= (HPD)	NP_002141.1:p.Val61=
XR_002957437.1:n.324-274C= (TIALD)
NM_002150.3:c.181G= (HPD) MANE Select	NP_002141.2:p.Val61=
NM_001171993.2:c.64G= (HPD)	NP_001165464.1:p.Val22=