Canonical Allele Identifier: CA788466535
Gene: HHIP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.144721927G>C , CM000666.2:g.144721927G>C GRCh38
NC_000004.11:g.145643079G>C , CM000666.1:g.145643079G>C GRCh37
NC_000004.10:g.145862529G>C NCBI36
NG_011496.1:g.80907G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000296575.8:c.1760+2971G>C MANE Select ENSP00000296575.3:n.1760+2971G>C
ENST00000649263.1:c.328-305949C>G ENSP00000497507.1:n.328-305949C>G
ENST00000296575.7:c.1760+2971G>C ENSP00000296575.3:n.1760+2971G>C
NM_022475.2:c.1760+2971G>C NP_071920.1:n.1760+2971G>C
XM_005263178.3:c.1760+2971G>C XP_005263235.1:n.1760+2971G>C
XM_006714288.2:c.1760+2971G>C XP_006714351.1:n.1760+2971G>C
XM_005263178.5:c.1760+2971G>C XP_005263235.1:n.1760+2971G>C
XM_006714288.4:c.1760+2971G>C XP_006714351.1:n.1760+2971G>C
NM_022475.3:c.1760+2971G>C MANE Select NP_071920.1:n.1760+2971G>C