Canonical Allele Identifier: CA482174853

Gene: HPD TIALD

Linked Data

• MyVariant Identifiers: chr12:g.122295246G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121857340G>T , CM000674.2:g.121857340G>T	GRCh38
NC_000012.11:g.122295246G>T , CM000674.1:g.122295246G>T	GRCh37
NC_000012.10:g.120779629G>T	NCBI36
NG_016461.1:g.36272C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000289004.8:c.186C>A (HPD) MANE Select	ENSP00000289004.4:p.Ile62=
ENST00000535114.1:n.542C>A (HPD)
ENST00000542159.2:n.244C>A (HPD)
ENST00000543163.5:c.69C>A (HPD)	ENSP00000441677.1:p.Ile23=
NM_001171993.1:c.69C>A (HPD)	NP_001165464.1:p.Ile23=
NM_002150.2:c.186C>A (HPD)	NP_002141.1:p.Ile62=
XR_002957437.1:n.324-279G>T (TIALD)
NM_002150.3:c.186C>A (HPD) MANE Select	NP_002141.2:p.Ile62=
NM_001171993.2:c.69C>A (HPD)	NP_001165464.1:p.Ile23=