Canonical Allele Identifier: CA6839842

Gene: HPD TIALD

Linked Data

• ClinVar Variation Id: 307490
• ClinVar RCV Id: RCV000290358 ; RCV000395475 ; RCV002520789
• dbSNP Id: rs542121054
• ExAC: 12:122295654 G / A
• gnomAD v2: 12-122295654-G-A
• gnomAD v3: 12-121857748-G-A
• gnomAD v4: 12-121857748-G-A
• MyVariant Identifiers: chr12:g.122295654G>A (hg19) ; chr12:g.121857748G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121857748G>A , CM000674.2:g.121857748G>A	GRCh38
NC_000012.11:g.122295654G>A , CM000674.1:g.122295654G>A	GRCh37
NC_000012.10:g.120780037G>A	NCBI36
NG_016461.1:g.35864C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289004.8:c.93+9C>T (HPD) MANE Select	ENSP00000289004.4:n.93+9C>T
ENST00000535114.1:n.134C>T (HPD)
ENST00000543163.5:c.-25+9C>T (HPD)	ENSP00000441677.1:n.-25+9C>T
NM_001171993.1:c.-25+9C>T (HPD)	NP_001165464.1:n.-25+9C>T
NM_002150.2:c.93+9C>T (HPD)	NP_002141.1:n.93+9C>T
XR_002957437.1:n.453G>A (TIALD)
NM_002150.3:c.93+9C>T (HPD) MANE Select	NP_002141.2:n.93+9C>T
NM_001171993.2:c.-25+9C>T (HPD)	NP_001165464.1:n.-25+9C>T