Canonical Allele Identifier: CA12891039
Gene: PHYHIP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.22230919A>G , CM000670.2:g.22230919A>G GRCh38
NC_000008.10:g.22088432A>G , CM000670.1:g.22088432A>G GRCh37
NC_000008.9:g.22144377A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000454243.7:c.-30+877T>C MANE Select ENSP00000415491.2:n.-30+877T>C
ENST00000321613.7:c.-152+877T>C ENSP00000320017.3:n.-152+877T>C
ENST00000454243.6:c.-30+877T>C ENSP00000415491.2:n.-30+877T>C
NM_001099335.1:c.-152+877T>C NP_001092805.1:n.-152+877T>C
NM_014759.3:c.-30+877T>C NP_055574.3:n.-30+877T>C
XM_006716416.1:c.-30+877T>C XP_006716479.1:n.-30+877T>C
XR_247134.2:n.338+877T>C
NM_001363311.1:c.-152+877T>C NP_001350240.1:n.-152+877T>C
NM_001363312.1:c.-30+877T>C NP_001350241.1:n.-30+877T>C
NR_156475.1:n.557+877T>C
NM_014759.4:c.-30+877T>C NP_055574.3:n.-30+877T>C
NM_014759.5:c.-30+877T>C MANE Select NP_055574.3:n.-30+877T>C
NM_001099335.2:c.-152+877T>C NP_001092805.1:n.-152+877T>C
NM_001363311.2:c.-152+877T>C NP_001350240.1:n.-152+877T>C
NM_001363312.2:c.-30+877T>C NP_001350241.1:n.-30+877T>C
NR_156475.2:n.304+877T>C