Canonical Allele Identifier: CA12718198

Gene: PHYHIP

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22228978G>A , CM000670.2:g.22228978G>A	GRCh38
NC_000008.10:g.22086491G>A , CM000670.1:g.22086491G>A	GRCh37
NC_000008.9:g.22142436G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454243.7:c.-29-592C>T MANE Select	ENSP00000415491.2:n.-29-592C>T
ENST00000321613.7:c.-151-69C>T	ENSP00000320017.3:n.-151-69C>T
ENST00000454243.6:c.-29-592C>T	ENSP00000415491.2:n.-29-592C>T
NM_001099335.1:c.-151-69C>T	NP_001092805.1:n.-151-69C>T
NM_014759.3:c.-29-592C>T	NP_055574.3:n.-29-592C>T
XM_006716416.1:c.-29-592C>T	XP_006716479.1:n.-29-592C>T
XR_247134.2:n.339-592C>T
NM_001363311.1:c.-151-69C>T	NP_001350240.1:n.-151-69C>T
NM_001363312.1:c.-29-592C>T	NP_001350241.1:n.-29-592C>T
NR_156475.1:n.558-592C>T
NM_014759.4:c.-29-592C>T	NP_055574.3:n.-29-592C>T
NM_014759.5:c.-29-592C>T MANE Select	NP_055574.3:n.-29-592C>T
NM_001099335.2:c.-151-69C>T	NP_001092805.1:n.-151-69C>T
NM_001363311.2:c.-151-69C>T	NP_001350240.1:n.-151-69C>T
NM_001363312.2:c.-29-592C>T	NP_001350241.1:n.-29-592C>T
NR_156475.2:n.305-592C>T