Canonical Allele Identifier: CA11999784
Gene: GHR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.42489040A>C , CM000667.2:g.42489040A>C GRCh38
NC_000005.9:g.42489142A>C , CM000667.1:g.42489142A>C GRCh37
NC_000005.8:g.42524899A>C NCBI36
NG_011688.1:g.70117A>C
NG_011688.2:g.70117A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000230882.9:c.-12+65085A>C MANE Select ENSP00000230882.4:n.-12+65085A>C
ENST00000230882.8:c.-12+65085A>C ENSP00000230882.4:n.-12+65085A>C
ENST00000513671.5:c.-12+64442A>C ENSP00000426739.1:n.-12+64442A>C
ENST00000615111.4:c.-296-25040A>C ENSP00000478291.1:n.-296-25040A>C
ENST00000620156.4:c.10+64442A>C ENSP00000483403.1:n.10+64442A>C
NM_000163.4:c.-12+65085A>C NP_000154.1:n.-12+65085A>C
NM_001242399.2:c.10+64442A>C NP_001229328.1:n.10+64442A>C
NM_001242400.2:c.-296-25040A>C NP_001229329.1:n.-296-25040A>C
NM_001242401.3:c.-12+5711A>C NP_001229330.1:n.-12+5711A>C
XM_011514031.1:c.10+64442A>C XP_011512333.1:n.10+64442A>C
NM_000163.5:c.-12+65085A>C MANE Select NP_000154.1:n.-12+65085A>C
NM_001242401.4:c.-12+5711A>C NP_001229330.1:n.-12+5711A>C