Canonical Allele Identifier: CA482174827

Gene: HPD TIALD

Linked Data

• gnomAD v4: 12-121857334-T-C
• MyVariant Identifiers: chr12:g.122295240T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121857334T>C , CM000674.2:g.121857334T>C	GRCh38
NC_000012.11:g.122295240T>C , CM000674.1:g.122295240T>C	GRCh37
NC_000012.10:g.120779623T>C	NCBI36
NG_016461.1:g.36278A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289004.8:c.192A>G (HPD) MANE Select	ENSP00000289004.4:p.Gln64=
ENST00000535114.1:n.548A>G (HPD)
ENST00000542159.2:n.250A>G (HPD)
ENST00000543163.5:c.75A>G (HPD)	ENSP00000441677.1:p.Gln25=
NM_001171993.1:c.75A>G (HPD)	NP_001165464.1:p.Gln25=
NM_002150.2:c.192A>G (HPD)	NP_002141.1:p.Gln64=
XR_002957437.1:n.324-285T>C (TIALD)
NM_002150.3:c.192A>G (HPD) MANE Select	NP_002141.2:p.Gln64=
NM_001171993.2:c.75A>G (HPD)	NP_001165464.1:p.Gln25=