Canonical Allele Identifier: CA6839727

Gene: HPD TIALD

Linked Data

• ClinVar Variation Id: 307487
• ClinVar RCV Id: RCV000296056 ; RCV000388016 ; RCV002056274
• dbSNP Id: rs117079110
• ExAC: 12:122294260 G / A
• gnomAD v2: 12-122294260-G-A
• gnomAD v3: 12-121856354-G-A
• gnomAD v4: 12-121856354-G-A
• MyVariant Identifiers: chr12:g.122294260G>A (hg19) ; chr12:g.121856354G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121856354G>A , CM000674.2:g.121856354G>A	GRCh38
NC_000012.11:g.122294260G>A , CM000674.1:g.122294260G>A	GRCh37
NC_000012.10:g.120778643G>A	NCBI36
NG_016461.1:g.37258C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289004.8:c.294C>T (HPD) MANE Select	ENSP00000289004.4:p.Phe98=
ENST00000542159.2:n.330C>T (HPD)
ENST00000543163.5:c.177C>T (HPD)	ENSP00000441677.1:p.Phe59=
NM_001171993.1:c.177C>T (HPD)	NP_001165464.1:p.Phe59=
NM_002150.2:c.294C>T (HPD)	NP_002141.1:p.Phe98=
XR_002957437.1:n.31G>A (TIALD)
NM_002150.3:c.294C>T (HPD) MANE Select	NP_002141.2:p.Phe98=
NM_001171993.2:c.177C>T (HPD)	NP_001165464.1:p.Phe59=