Canonical Allele Identifier: CA2575327685

Gene: HPD TIALD

Linked Data

• gnomAD v4: 12-121857449-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121857449C>T , CM000674.2:g.121857449C>T	GRCh38
NC_000012.11:g.122295355C>T , CM000674.1:g.122295355C>T	GRCh37
NC_000012.10:g.120779738C>T	NCBI36
NG_016461.1:g.36163G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289004.8:c.94-17G>A (HPD) MANE Select	ENSP00000289004.4:n.94-17G>A
ENST00000535114.1:n.433G>A (HPD)
ENST00000542159.2:n.135G>A (HPD)
ENST00000543163.5:c.-24-17G>A (HPD)	ENSP00000441677.1:n.-24-17G>A
NM_001171993.1:c.-24-17G>A (HPD)	NP_001165464.1:n.-24-17G>A
NM_002150.2:c.94-17G>A (HPD)	NP_002141.1:n.94-17G>A
XR_002957437.1:n.324-170C>T (TIALD)
NM_002150.3:c.94-17G>A (HPD) MANE Select	NP_002141.2:n.94-17G>A
NM_001171993.2:c.-24-17G>A (HPD)	NP_001165464.1:n.-24-17G>A