Canonical Allele Identifier: CA358812699

Gene: HPGD

Linked Data

• MyVariant Identifiers: chr4:g.175429850C>A (hg19) ; chr4:g.174508699C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.174508699C>A , CM000666.2:g.174508699C>A	GRCh38
NC_000004.11:g.175429850C>A , CM000666.1:g.175429850C>A	GRCh37
NC_000004.10:g.175666425C>A	NCBI36
NG_011689.1:g.18943G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000296522.11:c.418G>T MANE Select	ENSP00000296522.6:p.Ala140Ser
ENST00000296521.11:c.418G>T	ENSP00000296521.7:p.Ala140Ser
ENST00000296522.10:c.418G>T	ENSP00000296522.6:p.Ala140Ser
ENST00000422112.6:c.218-13075G>T	ENSP00000398720.2:n.218-13075G>T
ENST00000504433.1:c.418G>T	ENSP00000420892.1:p.Ala140Ser
ENST00000506910.5:c.55G>T	ENSP00000423066.1:p.Ala19Ser
ENST00000508330.5:c.*47G>T	ENSP00000425741.1:n.*47G>T
ENST00000510835.5:c.*180G>T	ENSP00000427699.1:n.*180G>T
ENST00000510901.5:c.55G>T	ENSP00000422418.1:p.Ala19Ser
ENST00000512410.1:n.399G>T
ENST00000514584.5:c.55G>T	ENSP00000423110.1:p.Ala19Ser
ENST00000541923.5:c.55G>T	ENSP00000438017.1:p.Ala19Ser
ENST00000542498.5:c.418G>T	ENSP00000443644.1:p.Ala140Ser
NM_000860.5:c.418G>T	NP_000851.2:p.Ala140Ser
NM_001145816.2:c.418G>T	NP_001139288.1:p.Ala140Ser
NM_001256301.1:c.55G>T	NP_001243230.1:p.Ala19Ser
NM_001256305.1:c.418G>T	NP_001243234.1:p.Ala140Ser
NM_001256306.1:c.218-13075G>T	NP_001243235.1:n.218-13075G>T
NM_001256307.1:c.55G>T	NP_001243236.1:p.Ala19Ser
XM_011531907.1:c.418G>T	XP_011530209.1:p.Ala140Ser
XR_938728.1:n.860G>T
NM_001363574.1:c.418G>T	NP_001350503.1:p.Ala140Ser
XR_938728.2:n.455G>T
NM_000860.6:c.418G>T MANE Select	NP_000851.2:p.Ala140Ser
NM_001363574.2:c.418G>T	NP_001350503.1:p.Ala140Ser
NM_001145816.3:c.418G>T	NP_001139288.1:p.Ala140Ser
NM_001256305.2:c.418G>T	NP_001243234.1:p.Ala140Ser
NM_001256306.2:c.218-13075G>T	NP_001243235.1:n.218-13075G>T
NM_001256307.2:c.55G>T	NP_001243236.1:p.Ala19Ser