Canonical Allele Identifier: CA6839924

Gene: HPD TIALD

Linked Data

• ClinVar Variation Id: 368981
• ClinVar RCV Id: RCV000260158 ; RCV000299023 ; RCV002285325
• dbSNP Id: rs199549271
• ExAC: 12:122296779 T / C
• gnomAD v2: 12-122296779-T-C
• gnomAD v3: 12-121858873-T-C
• gnomAD v4: 12-121858873-T-C
• MyVariant Identifiers: chr12:g.122296779T>C (hg19) ; chr12:g.121858873T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121858873T>C , CM000674.2:g.121858873T>C	GRCh38
NC_000012.11:g.122296779T>C , CM000674.1:g.122296779T>C	GRCh37
NC_000012.10:g.120781162T>C	NCBI36
NG_016461.1:g.34739A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000543163.5:c.-115+52A>G (HPD)	ENSP00000441677.1:n.-115+52A>G
NM_001171993.1:c.-115+52A>G (HPD)	NP_001165464.1:n.-115+52A>G
XR_945467.1:n.89+1035T>C (TIALD)
XR_002957437.1:n.543+1035T>C (TIALD)
NM_001171993.2:c.-115+52A>G (HPD)	NP_001165464.1:n.-115+52A>G