Canonical Allele Identifier: CA6839849

Gene: HPD TIALD

Linked Data

• ClinVar Variation Id: 529468
• ClinVar RCV Id: RCV000634916 ; RCV000714861 ; RCV001784207
• dbSNP Id: rs367674632
• ExAC: 12:122295681 C / T
• gnomAD v2: 12-122295681-C-T
• gnomAD v3: 12-121857775-C-T
• gnomAD v4: 12-121857775-C-T
• MyVariant Identifiers: chr12:g.122295681C>T (hg19) ; chr12:g.121857775C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121857775C>T , CM000674.2:g.121857775C>T	GRCh38
NC_000012.11:g.122295681C>T , CM000674.1:g.122295681C>T	GRCh37
NC_000012.10:g.120780064C>T	NCBI36
NG_016461.1:g.35837G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289004.8:c.75G>A (HPD) MANE Select	ENSP00000289004.4:p.Trp25Ter
ENST00000535114.1:n.107G>A (HPD)
ENST00000543163.5:c.-43G>A (HPD)	ENSP00000441677.1:n.-43G>A
NM_001171993.1:c.-43G>A (HPD)	NP_001165464.1:n.-43G>A
NM_002150.2:c.75G>A (HPD)	NP_002141.1:p.Trp25Ter
XR_945467.1:n.26C>T (TIALD)
XR_002957437.1:n.480C>T (TIALD)
NM_002150.3:c.75G>A (HPD) MANE Select	NP_002141.2:p.Trp25Ter
NM_001171993.2:c.-43G>A (HPD)	NP_001165464.1:n.-43G>A