Canonical Allele Identifier: CA390154601

Gene: PIGH GPHN

Linked Data

• gnomAD v4: 14-67592640-A-G
• MyVariant Identifiers: chr14:g.68059357A>G (hg19) ; chr14:g.67592640A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.67592640A>G , CM000676.2:g.67592640A>G	GRCh38
NC_000014.8:g.68059357A>G , CM000676.1:g.68059357A>G	GRCh37
NC_000014.7:g.67129110A>G	NCBI36
NG_050632.2:g.12663T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216452.9:c.469T>C (PIGH) MANE Select	ENSP00000216452.4:p.Phe157Leu
ENST00000216452.8:c.469T>C (PIGH)	ENSP00000216452.4:p.Phe157Leu
ENST00000558001.1:c.*212T>C (PIGH)	ENSP00000454061.1:n.*212T>C
ENST00000558198.5:c.*133+1103T>C (PIGH)	ENSP00000452924.1:n.*133+1103T>C
ENST00000558493.1:c.319+1103T>C (PIGH)
ENST00000558987.5:c.255T>C (PIGH)
ENST00000559118.1:n.137T>C (PIGH)
ENST00000559415.1:c.373T>C (PIGH)	ENSP00000452996.1:p.Phe125Leu
ENST00000559581.5:c.352T>C (PIGH)	ENSP00000453733.1:p.Phe118Leu
ENST00000560722.5:c.466T>C (PIGH)	ENSP00000453394.1:p.Phe156Leu
ENST00000561272.5:c.435T>C (PIGH)
ENST00000561303.5:c.*82T>C (PIGH)	ENSP00000452974.1:n.*82T>C
NM_004569.3:c.469T>C (PIGH)	NP_004560.1:p.Phe157Leu
XM_006720172.2:c.457T>C (PIGH)	XP_006720235.1:p.Phe153Leu
XM_011536838.1:c.469T>C (PIGH)	XP_011535140.1:p.Phe157Leu
XR_943477.1:n.581T>C (PIGH)
NM_001363694.1:c.466T>C (PIGH)	NP_001350623.1:p.Phe156Leu
NM_004569.4:c.469T>C (PIGH)	NP_004560.1:p.Phe157Leu
XM_011536838.3:c.469T>C (PIGH)	XP_011535140.1:p.Phe157Leu
XM_017020925.2:c.1313-142555A>G (GPHN)	XP_016876414.1:n.1313-142555A>G
XM_017021371.2:c.466T>C (PIGH)	XP_016876860.1:p.Phe156Leu
NM_004569.5:c.469T>C (PIGH) MANE Select	NP_004560.1:p.Phe157Leu