Canonical Allele Identifier: CA849890836
Gene: PHYHIP HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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