Canonical Allele Identifier: CA6839818

Gene: HPD TIALD

Linked Data

• ClinVar Variation Id: 307489
• ClinVar RCV Id: RCV000293953 ; RCV000348844 ; RCV001511482 ; RCV001642960 ; RCV003983008
• dbSNP Id: rs2707072
• ExAC: 12:122295344 T / A
• gnomAD v2: 12-122295344-T-A
• gnomAD v3: 12-121857438-T-A
• gnomAD v4: 12-121857438-T-A
• MyVariant Identifiers: chr12:g.122295344T>A (hg19) ; chr12:g.121857438T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121857438T>A , CM000674.2:g.121857438T>A	GRCh38
NC_000012.11:g.122295344T>A , CM000674.1:g.122295344T>A	GRCh37
NC_000012.10:g.120779727T>A	NCBI36
NG_016461.1:g.36174A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000289004.8:c.94-6A>T (HPD) MANE Select	ENSP00000289004.4:n.94-6A>T
ENST00000535114.1:n.444A>T (HPD)
ENST00000542159.2:n.146A>T (HPD)
ENST00000543163.5:c.-24-6A>T (HPD)	ENSP00000441677.1:n.-24-6A>T
NM_001171993.1:c.-24-6A>T (HPD)	NP_001165464.1:n.-24-6A>T
NM_002150.2:c.94-6A>T (HPD)	NP_002141.1:n.94-6A>T
XR_002957437.1:n.324-181T>A (TIALD)
NM_002150.3:c.94-6A>T (HPD) MANE Select	NP_002141.2:n.94-6A>T
NM_001171993.2:c.-24-6A>T (HPD)	NP_001165464.1:n.-24-6A>T