Canonical Allele Identifier: CA6839825

Gene: HPD TIALD

Linked Data

• dbSNP Id: rs768524907
• ExAC: 12:122295356 A / G
• gnomAD v2: 12-122295356-A-G
• gnomAD v4: 12-121857450-A-G
• MyVariant Identifiers: chr12:g.122295356A>G (hg19) ; chr12:g.121857450A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121857450A>G , CM000674.2:g.121857450A>G	GRCh38
NC_000012.11:g.122295356A>G , CM000674.1:g.122295356A>G	GRCh37
NC_000012.10:g.120779739A>G	NCBI36
NG_016461.1:g.36162T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289004.8:c.94-18T>C (HPD) MANE Select	ENSP00000289004.4:n.94-18T>C
ENST00000535114.1:n.432T>C (HPD)
ENST00000542159.2:n.134T>C (HPD)
ENST00000543163.5:c.-24-18T>C (HPD)	ENSP00000441677.1:n.-24-18T>C
NM_001171993.1:c.-24-18T>C (HPD)	NP_001165464.1:n.-24-18T>C
NM_002150.2:c.94-18T>C (HPD)	NP_002141.1:n.94-18T>C
XR_002957437.1:n.324-169A>G (TIALD)
NM_002150.3:c.94-18T>C (HPD) MANE Select	NP_002141.2:n.94-18T>C
NM_001171993.2:c.-24-18T>C (HPD)	NP_001165464.1:n.-24-18T>C