Canonical Allele Identifier: CA387002403

Gene: HPD TIALD

Linked Data

• dbSNP Id: rs2137633171
• MyVariant Identifiers: chr12:g.122295317T>G (hg19) ; chr12:g.121857411T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121857411T>G , CM000674.2:g.121857411T>G	GRCh38
NC_000012.11:g.122295317T>G , CM000674.1:g.122295317T>G	GRCh37
NC_000012.10:g.120779700T>G	NCBI36
NG_016461.1:g.36201A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289004.8:c.115A>C (HPD) MANE Select	ENSP00000289004.4:p.Lys39Gln
ENST00000535114.1:n.471A>C (HPD)
ENST00000542159.2:n.173A>C (HPD)
ENST00000543163.5:c.-3A>C (HPD)	ENSP00000441677.1:n.-3A>C
NM_001171993.1:c.-3A>C (HPD)	NP_001165464.1:n.-3A>C
NM_002150.2:c.115A>C (HPD)	NP_002141.1:p.Lys39Gln
XR_002957437.1:n.324-208T>G (TIALD)
NM_002150.3:c.115A>C (HPD) MANE Select	NP_002141.2:p.Lys39Gln
NM_001171993.2:c.-3A>C (HPD)	NP_001165464.1:n.-3A>C