Canonical Allele Identifier: CA387001875

Gene: HPD TIALD

Linked Data

• gnomAD v4: 12-121857335-T-C
• MyVariant Identifiers: chr12:g.122295241T>C (hg19) ; chr12:g.121857335T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121857335T>C , CM000674.2:g.121857335T>C	GRCh38
NC_000012.11:g.122295241T>C , CM000674.1:g.122295241T>C	GRCh37
NC_000012.10:g.120779624T>C	NCBI36
NG_016461.1:g.36277A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000289004.8:c.191A>G (HPD) MANE Select	ENSP00000289004.4:p.Gln64Arg
ENST00000535114.1:n.547A>G (HPD)
ENST00000542159.2:n.249A>G (HPD)
ENST00000543163.5:c.74A>G (HPD)	ENSP00000441677.1:p.Gln25Arg
NM_001171993.1:c.74A>G (HPD)	NP_001165464.1:p.Gln25Arg
NM_002150.2:c.191A>G (HPD)	NP_002141.1:p.Gln64Arg
XR_002957437.1:n.324-284T>C (TIALD)
NM_002150.3:c.191A>G (HPD) MANE Select	NP_002141.2:p.Gln64Arg
NM_001171993.2:c.74A>G (HPD)	NP_001165464.1:p.Gln25Arg