Canonical Allele Identifier: CA6839812

Gene: HPD TIALD

Linked Data

• ClinVar Variation Id: 2930347
• ClinVar RCV Id: RCV003789657 ; RCV003893400
• dbSNP Id: rs760875958
• ExAC: 12:122295333 C / T
• gnomAD v2: 12-122295333-C-T
• gnomAD v3: 12-121857427-C-T
• gnomAD v4: 12-121857427-C-T
• MyVariant Identifiers: chr12:g.122295333C>T (hg19) ; chr12:g.121857427C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121857427C>T , CM000674.2:g.121857427C>T	GRCh38
NC_000012.11:g.122295333C>T , CM000674.1:g.122295333C>T	GRCh37
NC_000012.10:g.120779716C>T	NCBI36
NG_016461.1:g.36185G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289004.8:c.99G>A (HPD) MANE Select	ENSP00000289004.4:p.Thr33=
ENST00000535114.1:n.455G>A (HPD)
ENST00000542159.2:n.157G>A (HPD)
ENST00000543163.5:c.-19G>A (HPD)	ENSP00000441677.1:n.-19G>A
NM_001171993.1:c.-19G>A (HPD)	NP_001165464.1:n.-19G>A
NM_002150.2:c.99G>A (HPD)	NP_002141.1:p.Ala33=
XR_002957437.1:n.324-192C>T (TIALD)
NM_002150.3:c.99G>A (HPD) MANE Select	NP_002141.2:p.Thr33=
NM_001171993.2:c.-19G>A (HPD)	NP_001165464.1:n.-19G>A